Canonical Allele Identifier: CA893591033
Gene:

Linked Data

dbSNP Id: rs1232598635
gnomAD v3: 2-81645843-G-T
gnomAD v4: 2-81645843-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.81645843G>T , CM000664.2:g.81645843G>T GRCh38
NC_000002.11:g.81872967G>T , CM000664.1:g.81872967G>T GRCh37
NC_000002.10:g.81726478G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940294.1:n.563+66234G>T
XR_940295.1:n.485+97096G>T
XR_001739571.1:n.485+97096G>T