Canonical Allele Identifier: CA310819015
Gene:

Linked Data

dbSNP Id: rs571178829
gnomAD v2: 20-1856093-C-A
gnomAD v3: 20-1875447-C-A
gnomAD v4: 20-1875447-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1875447C>A , CM000682.2:g.1875447C>A GRCh38
NC_000020.10:g.1856093C>A , CM000682.1:g.1856093C>A GRCh37
NC_000020.9:g.1804093C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754467.1:n.433-7354G>T