Canonical Allele Identifier: CA121722123

Gene:

Linked Data

• dbSNP Id: rs112677851
• gnomAD v2: 5-78845811-G-T
• gnomAD v3: 5-79549988-G-T
• gnomAD v4: 5-79549988-G-T
• MyVariant Identifiers: chr5:g.78845811G>T (hg19) ; chr5:g.79549988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549988G>T , CM000667.2:g.79549988G>T	GRCh38
NC_000005.9:g.78845811G>T , CM000667.1:g.78845811G>T	GRCh37
NC_000005.8:g.78881567G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948497.1:n.72+2344G>T
XR_948498.1:n.159+2151G>T
XR_948499.1:n.67+1686G>T
XR_948497.2:n.72+2344G>T
XR_948498.2:n.159+2151G>T
XR_948499.2:n.225+1686G>T