Canonical Allele Identifier: CA611793681

Gene:

Linked Data

• dbSNP Id: rs1449442247
• gnomAD v2: 13-95505385-T-C
• gnomAD v3: 13-94853131-T-C
• gnomAD v4: 13-94853131-T-C
• MyVariant Identifiers: chr13:g.95505385T>C (hg19) ; chr13:g.94853131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853131T>C , CM000675.2:g.94853131T>C	GRCh38
NC_000013.10:g.95505385T>C , CM000675.1:g.95505385T>C	GRCh37
NC_000013.9:g.94303386T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110754.1:n.257-52333T>C