Canonical Allele Identifier: CA310819059
Gene:

Linked Data

dbSNP Id: rs553598228
gnomAD v3: 20-1875496-A-G
gnomAD v4: 20-1875496-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1875496A>G , CM000682.2:g.1875496A>G GRCh38
NC_000020.10:g.1856142A>G , CM000682.1:g.1856142A>G GRCh37
NC_000020.9:g.1804142A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754467.1:n.433-7403T>C