Canonical Allele Identifier: CA2254736362
Gene:

Linked Data

dbSNP Id: rs2069612861

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376293G>A , CM000679.2:g.29376293G>A GRCh38
NC_000017.10:g.27703311G>A , CM000679.1:g.27703311G>A GRCh37
NC_000017.9:g.24727437G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-5988C>T XP_011523890.1:n.1008-5988C>T