Canonical Allele Identifier: CA73026663
Gene:

Linked Data

dbSNP Id: rs764255650
gnomAD v3: 3-39263227-C-G
gnomAD v4: 3-39263227-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39263227C>G , CM000665.2:g.39263227C>G GRCh38
NC_000003.11:g.39304718C>G , CM000665.1:g.39304718C>G GRCh37
NC_000003.10:g.39279722C>G NCBI36
NG_016362.1:g.23509G>C

Transcript Alleles

HGVS Amino-acid change
XR_001740660.2:n.2744C>G