Canonical Allele Identifier: CA883240688
Gene:

Linked Data

dbSNP Id: rs1341172064

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837269T>C , CM000681.2:g.50837269T>C GRCh38
NC_000019.9:g.51340525T>C , CM000681.1:g.51340525T>C GRCh37
NC_000019.8:g.56032337T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+5976T>C
NR_131205.1:n.230+5976T>C
XR_936030.1:n.298+5976T>C
XR_936031.1:n.298+5976T>C
XR_936032.1:n.298+5976T>C
XR_936033.1:n.294+5976T>C
XR_936035.1:n.281+5976T>C