Canonical Allele Identifier: CA741768350
Gene:

Linked Data

dbSNP Id: rs1159172918
gnomAD v3: 20-1875461-A-C
gnomAD v4: 20-1875461-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1875461A>C , CM000682.2:g.1875461A>C GRCh38
NC_000020.10:g.1856107A>C , CM000682.1:g.1856107A>C GRCh37
NC_000020.9:g.1804107A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754467.1:n.433-7368T>G