Canonical Allele Identifier: CA121722117

Gene:

Linked Data

• dbSNP Id: rs898046816
• gnomAD v2: 5-78845760-C-T
• gnomAD v3: 5-79549937-C-T
• gnomAD v4: 5-79549937-C-T
• MyVariant Identifiers: chr5:g.78845760C>T (hg19) ; chr5:g.79549937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549937C>T , CM000667.2:g.79549937C>T	GRCh38
NC_000005.9:g.78845760C>T , CM000667.1:g.78845760C>T	GRCh37
NC_000005.8:g.78881516C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2293C>T
XR_948498.1:n.159+2100C>T
XR_948499.1:n.67+1635C>T
XR_948497.2:n.72+2293C>T
XR_948498.2:n.159+2100C>T
XR_948499.2:n.225+1635C>T