Canonical Allele Identifier: CA909017094
Gene:

Linked Data

dbSNP Id: rs1321880267
gnomAD v3: 3-61428044-G-C
gnomAD v4: 3-61428044-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428044G>C , CM000665.2:g.61428044G>C GRCh38
NC_000003.11:g.61413718G>C , CM000665.1:g.61413718G>C GRCh37
NC_000003.10:g.61388758G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-358C>G
XR_940893.1:n.164+470C>G
XR_001740725.1:n.202+470C>G
XR_940892.2:n.203-358C>G