Canonical Allele Identifier: CA2706650029
Gene:

Linked Data

dbSNP Id: rs2110153022

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474188A>G , CM000666.2:g.99474188A>G GRCh38
NC_000004.11:g.100395345A>G , CM000666.1:g.100395345A>G GRCh37
NC_000004.10:g.100614368A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2326T>C