Canonical Allele Identifier: CA2706650030
Gene:

Linked Data

dbSNP Id: rs2110153046

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474297G>A , CM000666.2:g.99474297G>A GRCh38
NC_000004.11:g.100395454G>A , CM000666.1:g.100395454G>A GRCh37
NC_000004.10:g.100614477G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2435C>T