Canonical Allele Identifier: CA730295508
Gene:

Linked Data

dbSNP Id: rs1224409606
gnomAD v3: 1-2036472-T-C
gnomAD v4: 1-2036472-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036472T>C , CM000663.2:g.2036472T>C GRCh38
NC_000001.10:g.1967911T>C , CM000663.1:g.1967911T>C GRCh37
NC_000001.9:g.1957771T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946823.1:n.736A>G
XR_001737845.2:n.739A>G
XR_946823.3:n.739A>G