Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571722A>T , CM000663.2:g.154571722A>T | GRCh38 |
| NC_000001.10:g.154544198A>T , CM000663.1:g.154544198A>T | GRCh37 |
| NC_000001.9:g.152810822A>T | NCBI36 |
| NG_008027.1:g.8942A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.899A>T MANE Select | ENSP00000357461.3:p.Tyr300Phe | |
| ENST00000636034.1:c.899A>T | ENSP00000489703.1:p.Tyr300Phe | |
| ENST00000637900.1:c.905A>T | ENSP00000490474.1:p.Tyr302Phe | |
| ENST00000368476.3:c.899A>T | ENSP00000357461.3:p.Tyr300Phe | |
| NM_000748.2:c.899A>T | NP_000739.1:p.Tyr300Phe | |
| XM_017000180.2:c.389A>T | XP_016855669.1:p.Tyr130Phe | |
| XR_001736952.2:n.1151A>T | ||
| NM_000748.3:c.899A>T MANE Select | NP_000739.1:p.Tyr300Phe |