Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508695G>T , CM000672.2:g.122508695G>T | GRCh38 |
| NC_000010.10:g.124268211G>T , CM000672.1:g.124268211G>T | GRCh37 |
| NC_000010.9:g.124258201G>T | NCBI36 |
| NG_011554.1:g.52171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1045G>T MANE Select | ENSP00000357980.3:p.Ala349Ser | |
| ENST00000648167.1:c.727G>T | ENSP00000498033.1:p.Ala243Ser | |
| ENST00000368984.7:c.1045G>T | ENSP00000357980.3:p.Ala349Ser | |
| ENST00000420892.1:c.268G>T | ENSP00000412676.1:p.Ala90Ser | |
| NM_002775.4:c.1045G>T | NP_002766.1:p.Ala349Ser | |
| NM_002775.5:c.1045G>T MANE Select | NP_002766.1:p.Ala349Ser |