Canonical Allele Identifier: CA721212449
Gene:

Linked Data

dbSNP Id: rs1370141331

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108552A>T , CM000678.2:g.49108552A>T GRCh38
NC_000016.9:g.49142463A>T , CM000678.1:g.49142463A>T GRCh37
NC_000016.8:g.47699964A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1392T>A
XR_001752138.2:n.591+5424T>A
XR_933517.2:n.810+1392T>A