Canonical Allele Identifier: CA121722106

Gene:

Linked Data

• dbSNP Id: rs568309371
• gnomAD v2: 5-78845679-G-C
• gnomAD v3: 5-79549856-G-C
• gnomAD v4: 5-79549856-G-C
• MyVariant Identifiers: chr5:g.78845679G>C (hg19) ; chr5:g.79549856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549856G>C , CM000667.2:g.79549856G>C	GRCh38
NC_000005.9:g.78845679G>C , CM000667.1:g.78845679G>C	GRCh37
NC_000005.8:g.78881435G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2212G>C
XR_948498.1:n.159+2019G>C
XR_948499.1:n.67+1554G>C
XR_948497.2:n.72+2212G>C
XR_948498.2:n.159+2019G>C
XR_948499.2:n.225+1554G>C