Canonical Allele Identifier: CA160479212
Gene:

Linked Data

dbSNP Id: rs538744017
gnomAD v3: 7-69147057-G-T
gnomAD v4: 7-69147057-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147057G>T , CM000669.2:g.69147057G>T GRCh38
NC_000007.13:g.68612044G>T , CM000669.1:g.68612044G>T GRCh37
NC_000007.12:g.68249980G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-931C>A