Canonical Allele Identifier: CA1557963446
Gene:

Linked Data

dbSNP Id: rs1753647707

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549996G>A , CM000667.2:g.79549996G>A GRCh38
NC_000005.9:g.78845819G>A , CM000667.1:g.78845819G>A GRCh37
NC_000005.8:g.78881575G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2352G>A
XR_948498.1:n.159+2159G>A
XR_948499.1:n.67+1694G>A
XR_948497.2:n.72+2352G>A
XR_948498.2:n.159+2159G>A
XR_948499.2:n.225+1694G>A