Canonical Allele Identifier: CA817908541
Gene:

Linked Data

dbSNP Id: rs1201894982
gnomAD v3: 6-11943654-G-A
gnomAD v4: 6-11943654-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943654G>A , CM000668.2:g.11943654G>A GRCh38
NC_000006.11:g.11943887G>A , CM000668.1:g.11943887G>A GRCh37
NC_000006.10:g.12051873G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7881G>A