Canonical Allele Identifier: CA814334978

Gene:

Linked Data

• dbSNP Id: rs1386365752
• MyVariant Identifiers: chr5:g.78845648G>A (hg19) ; chr5:g.79549825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549825G>A , CM000667.2:g.79549825G>A	GRCh38
NC_000005.9:g.78845648G>A , CM000667.1:g.78845648G>A	GRCh37
NC_000005.8:g.78881404G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2181G>A
XR_948498.1:n.159+1988G>A
XR_948499.1:n.67+1523G>A
XR_948497.2:n.72+2181G>A
XR_948498.2:n.159+1988G>A
XR_948499.2:n.225+1523G>A