Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506791C>A , CM000672.2:g.122506791C>A | GRCh38 |
| NC_000010.10:g.124266307C>A , CM000672.1:g.124266307C>A | GRCh37 |
| NC_000010.9:g.124256297C>A | NCBI36 |
| NG_011554.1:g.50267C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.878C>A MANE Select | ENSP00000357980.3:p.Thr293Asn | |
| ENST00000648167.1:c.560C>A | ENSP00000498033.1:p.Thr187Asn | |
| ENST00000368984.7:c.878C>A | ENSP00000357980.3:p.Thr293Asn | |
| ENST00000420892.1:c.101C>A | ENSP00000412676.1:p.Thr34Asn | |
| NM_002775.4:c.878C>A | NP_002766.1:p.Thr293Asn | |
| NM_002775.5:c.878C>A MANE Select | NP_002766.1:p.Thr293Asn |