Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508681C>A , CM000672.2:g.122508681C>A | GRCh38 |
| NC_000010.10:g.124268197C>A , CM000672.1:g.124268197C>A | GRCh37 |
| NC_000010.9:g.124258187C>A | NCBI36 |
| NG_011554.1:g.52157C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1031C>A MANE Select | ENSP00000357980.3:p.Thr344Asn | |
| ENST00000648167.1:c.713C>A | ENSP00000498033.1:p.Thr238Asn | |
| ENST00000368984.7:c.1031C>A | ENSP00000357980.3:p.Thr344Asn | |
| ENST00000420892.1:c.254C>A | ENSP00000412676.1:p.Thr85Asn | |
| NM_002775.4:c.1031C>A | NP_002766.1:p.Thr344Asn | |
| NM_002775.5:c.1031C>A MANE Select | NP_002766.1:p.Thr344Asn |