Canonical Allele Identifier: CA337532035
Gene:

Linked Data

dbSNP Id: rs17842518

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.21282085G>T , CM000686.2:g.21282085G>T GRCh38
NC_000024.9:g.23443971G>T , CM000686.1:g.23443971G>T GRCh37
NC_000024.8:g.21853359G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001756079.1:n.213+14070C>A