Canonical Allele Identifier: CA121722115

Gene:

Linked Data

• dbSNP Id: rs1004606729
• gnomAD v2: 5-78845734-A-G
• gnomAD v3: 5-79549911-A-G
• gnomAD v4: 5-79549911-A-G
• MyVariant Identifiers: chr5:g.78845734A>G (hg19) ; chr5:g.79549911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549911A>G , CM000667.2:g.79549911A>G	GRCh38
NC_000005.9:g.78845734A>G , CM000667.1:g.78845734A>G	GRCh37
NC_000005.8:g.78881490A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948497.1:n.72+2267A>G
XR_948498.1:n.159+2074A>G
XR_948499.1:n.67+1609A>G
XR_948497.2:n.72+2267A>G
XR_948498.2:n.159+2074A>G
XR_948499.2:n.225+1609A>G