Canonical Allele Identifier: CA76316053
Gene:

Linked Data

dbSNP Id: rs904080056
gnomAD v3: 3-61428097-T-C
gnomAD v4: 3-61428097-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428097T>C , CM000665.2:g.61428097T>C GRCh38
NC_000003.11:g.61413771T>C , CM000665.1:g.61413771T>C GRCh37
NC_000003.10:g.61388811T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-411A>G
XR_940893.1:n.164+417A>G
XR_001740725.1:n.202+417A>G
XR_940892.2:n.203-411A>G