Canonical Allele Identifier: CA2254736361
Gene:

Linked Data

dbSNP Id: rs2069612861

Genomic Alleles

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

Transcript Alleles

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