Canonical Allele Identifier: CA977151001
Gene:

Linked Data

dbSNP Id: rs1331454957
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108566C>A , CM000678.2:g.49108566C>A GRCh38
NC_000016.9:g.49142477C>A , CM000678.1:g.49142477C>A GRCh37
NC_000016.8:g.47699978C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1378G>T
XR_001752138.2:n.591+5410G>T
XR_933517.2:n.810+1378G>T
Search 100 bp 5'
Search 100 bp 3'