Canonical Allele Identifier: CA543528926
Gene:

Linked Data

dbSNP Id: rs1470148631
gnomAD v2: 3-61413886-G-A
gnomAD v3: 3-61428212-G-A
gnomAD v4: 3-61428212-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428212G>A , CM000665.2:g.61428212G>A GRCh38
NC_000003.11:g.61413886G>A , CM000665.1:g.61413886G>A GRCh37
NC_000003.10:g.61388926G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940892.1:n.164+302C>T
XR_940893.1:n.164+302C>T
XR_001740725.1:n.202+302C>T
XR_940892.2:n.202+302C>T