Canonical Allele Identifier: CA572611986
Gene:

Linked Data

dbSNP Id: rs1295371
gnomAD v2: 7-9856470-G-C
gnomAD v3: 7-9816841-G-C
gnomAD v4: 7-9816841-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.9816841G>C , CM000669.2:g.9816841G>C GRCh38
NC_000007.13:g.9856470G>C , CM000669.1:g.9856470G>C GRCh37
NC_000007.12:g.9822995G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927024.1:n.209+49949C>G
XR_927025.1:n.323+49949C>G
XR_927026.1:n.209+49949C>G
XR_927026.2:n.209+49949C>G