Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506755C>T , CM000672.2:g.122506755C>T | GRCh38 |
| NC_000010.10:g.124266271C>T , CM000672.1:g.124266271C>T | GRCh37 |
| NC_000010.9:g.124256261C>T | NCBI36 |
| NG_011554.1:g.50231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.842C>T MANE Select | ENSP00000357980.3:p.Ala281Val | |
| ENST00000648167.1:c.524C>T | ENSP00000498033.1:p.Ala175Val | |
| ENST00000368984.7:c.842C>T | ENSP00000357980.3:p.Ala281Val | |
| ENST00000420892.1:c.65C>T | ENSP00000412676.1:p.Ala22Val | |
| NM_002775.4:c.842C>T | NP_002766.1:p.Ala281Val | |
| NM_002775.5:c.842C>T MANE Select | NP_002766.1:p.Ala281Val |