Canonical Allele Identifier: CA134173709
Gene:

Linked Data

dbSNP Id: rs905128932
gnomAD v3: 6-11943527-G-A
gnomAD v4: 6-11943527-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943527G>A , CM000668.2:g.11943527G>A GRCh38
NC_000006.11:g.11943760G>A , CM000668.1:g.11943760G>A GRCh37
NC_000006.10:g.12051746G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8008G>A