Canonical Allele Identifier: CA2254736351
Gene:

Linked Data

dbSNP Id: rs2069612745

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376273C>T , CM000679.2:g.29376273C>T GRCh38
NC_000017.10:g.27703291C>T , CM000679.1:g.27703291C>T GRCh37
NC_000017.9:g.24727417C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-5968G>A XP_011523890.1:n.1008-5968G>A