Canonical Allele Identifier: CA2485976240

Gene:

Linked Data

• dbSNP Id: rs1658288424
• gnomAD v3: 1-213682355-T-C
• gnomAD v4: 1-213682355-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682355T>C , CM000663.2:g.213682355T>C	GRCh38
NC_000001.10:g.213855698T>C , CM000663.1:g.213855698T>C	GRCh37
NC_000001.9:g.211922321T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738463.1:n.601-49062T>C
XR_001738464.1:n.426-49062T>C