Canonical Allele Identifier:
CA2341104202
Gene:
Linked Data
dbSNP Id:
rs2090050051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50837510G>A , CM000681.2:g.50837510G>A | GRCh38 |
| NC_000019.9:g.51340766G>A , CM000681.1:g.51340766G>A | GRCh37 |
| NC_000019.8:g.56032578G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131203.1:n.213+6217G>A | ||
| NR_131205.1:n.230+6217G>A | ||
| XR_936030.1:n.298+6217G>A | ||
| XR_936031.1:n.298+6217G>A | ||
| XR_936032.1:n.298+6217G>A | ||
| XR_936033.1:n.294+6217G>A | ||
| XR_936035.1:n.281+6217G>A |