Canonical Allele Identifier: CA337625131
Gene:

Linked Data

dbSNP Id: rs17250887
gnomAD v3: Y-8690928-A-T
gnomAD v4: Y-8690928-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8690928A>T , CM000686.2:g.8690928A>T GRCh38
NC_000024.9:g.8558969A>T , CM000686.1:g.8558969A>T GRCh37
NC_000024.8:g.8618969A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624593.1:c.-56-32238T>A ENSP00000485106.1:n.-56-32238T>A