Canonical Allele Identifier: CA2467802675
Gene:

Linked Data

dbSNP Id: rs372943022

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.640971C>T , CM000686.2:g.640971C>T GRCh38
NC_000024.9:g.551706C>T , CM000686.1:g.551706C>T GRCh37
NC_000024.8:g.521706C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.545-28C>T ENSP00000518639.1:n.545-28C>T
ENST00000711142.1:c.545-28C>T ENSP00000518640.1:n.545-28C>T
ENST00000711143.1:c.545-28C>T ENSP00000518641.1:n.545-28C>T
ENST00000711145.1:c.545-28C>T ENSP00000518642.1:n.545-28C>T