Canonical Allele Identifier: CA155450357
Gene:

Linked Data

dbSNP Id: rs10245779
gnomAD v2: 7-19042749-G-C
gnomAD v3: 7-19003126-G-C
gnomAD v4: 7-19003126-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19003126G>C , CM000669.2:g.19003126G>C GRCh38
NC_000007.13:g.19042749G>C , CM000669.1:g.19042749G>C GRCh37
NC_000007.12:g.19009274G>C NCBI36
NG_023250.3:g.921178G>C

Transcript Alleles

HGVS Amino-acid change
XR_927080.1:n.265-1879C>G