Canonical Allele Identifier: CA961998027

Gene:

Linked Data

• dbSNP Id: rs1882059842
• gnomAD v3: 14-36384772-T-C
• gnomAD v4: 14-36384772-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384772T>C , CM000676.2:g.36384772T>C	GRCh38
NC_000014.8:g.36853977T>C , CM000676.1:g.36853977T>C	GRCh37
NC_000014.7:g.35923728T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011537428.1:c.319-12387T>C	XP_011535730.1:n.319-12387T>C
XR_943756.1:n.358+23676T>C