Canonical Allele Identifier: CA43134679
Gene:

Linked Data

dbSNP Id: rs553617944
gnomAD v3: 2-14926082-T-C
gnomAD v4: 2-14926082-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.14926082T>C , CM000664.2:g.14926082T>C GRCh38
NC_000002.11:g.15066206T>C , CM000664.1:g.15066206T>C GRCh37
NC_000002.10:g.14983657T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_922818.1:n.205-146935A>G