Canonical Allele Identifier: CA76316069
Gene:

Linked Data

dbSNP Id: rs759673720
gnomAD v2: 3-61413879-C-G
gnomAD v3: 3-61428205-C-G
gnomAD v4: 3-61428205-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428205C>G , CM000665.2:g.61428205C>G GRCh38
NC_000003.11:g.61413879C>G , CM000665.1:g.61413879C>G GRCh37
NC_000003.10:g.61388919C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940892.1:n.164+309G>C
XR_940893.1:n.164+309G>C
XR_001740725.1:n.202+309G>C
XR_940892.2:n.202+309G>C