Canonical Allele Identifier: CA14678118
Gene:

Linked Data

dbSNP Id: rs2659053

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837538G>A , CM000681.2:g.50837538G>A GRCh38
NC_000019.9:g.51340794G>A , CM000681.1:g.51340794G>A GRCh37
NC_000019.8:g.56032606G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131203.1:n.213+6245G>A
NR_131205.1:n.230+6245G>A
XR_936030.1:n.298+6245G>A
XR_936031.1:n.298+6245G>A
XR_936032.1:n.298+6245G>A
XR_936033.1:n.294+6245G>A
XR_936035.1:n.281+6245G>A