Canonical Allele Identifier: CA117764860

Gene:

Linked Data

• dbSNP Id: rs145501754
• gnomAD v2: 5-41107528-C-T
• gnomAD v3: 5-41107426-C-T
• gnomAD v4: 5-41107426-C-T
• MyVariant Identifiers: chr5:g.41107528C>T (hg19) ; chr5:g.41107426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41107426C>T , CM000667.2:g.41107426C>T	GRCh38
NC_000005.9:g.41107528C>T , CM000667.1:g.41107528C>T	GRCh37
NC_000005.8:g.41143285C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925944.1:n.618-5202C>T
XR_925945.1:n.125-5202C>T
XR_925946.1:n.576-5202C>T
XR_925948.1:n.618-5202C>T
XR_001742650.1:n.618-5202C>T
XR_001742651.1:n.131-5202C>T