Canonical Allele Identifier: CA1481405857
Gene:

Linked Data

dbSNP Id: rs1738891676
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499922C>T , CM000666.2:g.102499922C>T GRCh38
NC_000004.11:g.103421079C>T , CM000666.1:g.103421079C>T GRCh37
NC_000004.10:g.103640111C>T NCBI36
NG_050628.1:g.3594C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1327G>A XP_011530769.1:n.643+1327G>A
NR_136202.1:n.48+2517G>A
Search 100 bp 5'
Search 100 bp 3'