Canonical Allele Identifier: CA817908528
Gene:

Linked Data

dbSNP Id: rs1162331555
gnomAD v3: 6-11943591-C-A
gnomAD v4: 6-11943591-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943591C>A , CM000668.2:g.11943591C>A GRCh38
NC_000006.11:g.11943824C>A , CM000668.1:g.11943824C>A GRCh37
NC_000006.10:g.12051810C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7944C>A