Canonical Allele Identifier: CA560694580

Gene:

Linked Data

• dbSNP Id: rs1185822065
• gnomAD v2: 5-78845849-A-C
• gnomAD v3: 5-79550026-A-C
• gnomAD v4: 5-79550026-A-C
• MyVariant Identifiers: chr5:g.78845849A>C (hg19) ; chr5:g.79550026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79550026A>C , CM000667.2:g.79550026A>C	GRCh38
NC_000005.9:g.78845849A>C , CM000667.1:g.78845849A>C	GRCh37
NC_000005.8:g.78881605A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2382A>C
XR_948498.1:n.159+2189A>C
XR_948499.1:n.67+1724A>C
XR_948497.2:n.72+2382A>C
XR_948498.2:n.159+2189A>C
XR_948499.2:n.225+1724A>C