Canonical Allele Identifier: CA909017102
Gene:

Linked Data

dbSNP Id: rs1386120758
gnomAD v3: 3-61428081-G-A
gnomAD v4: 3-61428081-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428081G>A , CM000665.2:g.61428081G>A GRCh38
NC_000003.11:g.61413755G>A , CM000665.1:g.61413755G>A GRCh37
NC_000003.10:g.61388795G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-395C>T
XR_940893.1:n.164+433C>T
XR_001740725.1:n.202+433C>T
XR_940892.2:n.203-395C>T