Canonical Allele Identifier: CA2221132752
Gene:

Linked Data

dbSNP Id: rs1260897341

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108518A>T , CM000678.2:g.49108518A>T GRCh38
NC_000016.9:g.49142429A>T , CM000678.1:g.49142429A>T GRCh37
NC_000016.8:g.47699930A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1426T>A
XR_001752138.2:n.591+5458T>A
XR_933517.2:n.810+1426T>A