Canonical Allele Identifier: CA48253050
Gene:

Linked Data

dbSNP Id: rs12994401

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.51845108C>T , CM000664.2:g.51845108C>T GRCh38
NC_000002.11:g.52072246C>T , CM000664.1:g.52072246C>T GRCh37
NC_000002.10:g.51925750C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245003.1:n.840-16341C>T
NR_135237.1:n.840-16341C>T