Canonical Allele Identifier: CA121722125

Gene:

Linked Data

• dbSNP Id: rs997994691
• gnomAD v2: 5-78845820-C-T
• gnomAD v3: 5-79549997-C-T
• gnomAD v4: 5-79549997-C-T
• MyVariant Identifiers: chr5:g.78845820C>T (hg19) ; chr5:g.79549997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549997C>T , CM000667.2:g.79549997C>T	GRCh38
NC_000005.9:g.78845820C>T , CM000667.1:g.78845820C>T	GRCh37
NC_000005.8:g.78881576C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2353C>T
XR_948498.1:n.159+2160C>T
XR_948499.1:n.67+1695C>T
XR_948497.2:n.72+2353C>T
XR_948498.2:n.159+2160C>T
XR_948499.2:n.225+1695C>T