ABO > ABO*AW.09
Allele Information
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Phenotypes
A
B
A,B
A1
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.46G>A | p.Ala16Thr | Exon 2 |
|
chr9:136,137,560 | chr9:133,262,144 |
|
|
| c.106G>T | p.Val36Phe | Exon 3 |
|
chr9:136,136,774 | chr9:133,261,358 |
|
|
| c.188G>A | p.Arg63His | Exon 4 |
|
chr9:136,135,240 | chr9:133,259,824 |
|
|
| c.220C>T | p.Pro74Ser | Exon 5 |
|
chr9:136,133,508 | chr9:133,258,092 |
|
|
| c.467C>T | p.Pro156Leu | Exon 7 |
|
chr9:136,131,651 | chr9:133,256,235 |
|
|
| c.1061delC | p.Pro354Argfs*23 | Exon 7 |
|
chr9:136,131,057 | chr9:133,255,641 |
|
Sequence
None
Publication
None