Canonical Allele Identifier: CA2718219588
Gene:

Linked Data

dbSNP Id: rs2129960133
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396228T>A , CM000670.2:g.122396228T>A GRCh38
NC_000008.10:g.123408467T>A , CM000670.1:g.123408467T>A GRCh37
NC_000008.9:g.123477648T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+2944A>T
XR_928599.3:n.152+2944A>T
Search 100 bp 5'
Search 100 bp 3'