Canonical Allele Identifier: CA2193585247

Gene:

Linked Data

• dbSNP Id: rs1596812594
• gnomAD v3: 15-87152124-T-C
• gnomAD v4: 15-87152124-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.87152124T>C , CM000677.2:g.87152124T>C	GRCh38
NC_000015.9:g.87695355T>C , CM000677.1:g.87695355T>C	GRCh37
NC_000015.8:g.85496359T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_932582.1:n.167-26103T>C
XR_932582.2:n.167-26103T>C