Canonical Allele Identifier: CA788842564
Gene:

Linked Data

dbSNP Id: rs1272771223

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649618A>G , CM000666.2:g.148649618A>G GRCh38
NC_000004.11:g.149570770A>G , CM000666.1:g.149570770A>G GRCh37
NC_000004.10:g.149790220A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939336.1:n.436+30714T>C
XR_001741441.1:n.1745+105034A>G
XR_939336.3:n.2920+30714T>C