Canonical Allele Identifier: CA564110972

Gene:

Linked Data

• dbSNP Id: rs1456035743
• gnomAD v2: 5-159911462-C-T
• gnomAD v3: 5-160484455-C-T
• gnomAD v4: 5-160484455-C-T
• MyVariant Identifiers: chr5:g.159911462C>T (hg19) ; chr5:g.160484455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.160484455C>T , CM000667.2:g.160484455C>T	GRCh38
NC_000005.9:g.159911462C>T , CM000667.1:g.159911462C>T	GRCh37
NC_000005.8:g.159844040C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_132748.1:n.191-844C>T