Canonical Allele Identifier: CA337439230
Gene:

Linked Data

dbSNP Id: rs186277588
gnomAD v3: Y-2822636-C-A
gnomAD v4: Y-2822636-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2822636C>A , CM000686.2:g.2822636C>A GRCh38
NC_000024.9:g.2690677C>A , CM000686.1:g.2690677C>A GRCh37
NC_000024.8:g.2750677C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.107-18850C>A
ENST00000681787.1:n.107-18392C>A
ENST00000681940.1:n.107-23010C>A