Canonical Allele Identifier:
CA2341104213
Gene:
Linked Data
dbSNP Id:
rs2090050144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50837537C>T , CM000681.2:g.50837537C>T | GRCh38 |
| NC_000019.9:g.51340793C>T , CM000681.1:g.51340793C>T | GRCh37 |
| NC_000019.8:g.56032605C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131203.1:n.213+6244C>T | ||
| NR_131205.1:n.230+6244C>T | ||
| XR_936030.1:n.298+6244C>T | ||
| XR_936031.1:n.298+6244C>T | ||
| XR_936032.1:n.298+6244C>T | ||
| XR_936033.1:n.294+6244C>T | ||
| XR_936035.1:n.281+6244C>T |