ABO > ABO*AW.02
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Phenotypes
A
B
A,B
A1
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.350G>C p.Gly117Ala Exon 6 chr9:136,132,820 chr9:133,257,404
 
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
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