Canonical Allele Identifier: CA803778395

Gene:

Linked Data

• dbSNP Id: rs769320982
• MyVariant Identifiers: chr5:g.128722626C>T (hg19) ; chr5:g.129386933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129386933C>T , CM000667.2:g.129386933C>T	GRCh38
NC_000005.9:g.128722626C>T , CM000667.1:g.128722626C>T	GRCh37
NC_000005.8:g.128750525C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_427770.2:n.163-1515C>T
XR_948774.1:n.235-5718C>T
XR_001742463.1:n.4089-1515C>T
XR_001742464.1:n.2019-5718C>T
XR_001742465.1:n.401-1515C>T
XR_427770.3:n.337-1515C>T