Canonical Allele Identifier: CA712571560
Gene:

Linked Data

dbSNP Id: rs1483052489

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38614877C>T , CM000677.2:g.38614877C>T GRCh38
NC_000015.9:g.38907078C>T , CM000677.1:g.38907078C>T GRCh37
NC_000015.8:g.36694370C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751736.1:n.281+2422C>T