Canonical Allele Identifier: CA160479207
Gene:

Linked Data

dbSNP Id: rs191638893
gnomAD v2: 7-68611934-G-A
gnomAD v3: 7-69146947-G-A
gnomAD v4: 7-69146947-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146947G>A , CM000669.2:g.69146947G>A GRCh38
NC_000007.13:g.68611934G>A , CM000669.1:g.68611934G>A GRCh37
NC_000007.12:g.68249870G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-821C>T