Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293287T>G , CM000684.2:g.45293287T>G | GRCh38 |
| NC_000022.10:g.45689168T>G , CM000684.1:g.45689168T>G | GRCh37 |
| NC_000022.9:g.44067832T>G | NCBI36 |
| NG_016203.1:g.13301T>G | |
| NG_016203.2:g.13301T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.678T>G MANE Select | ENSP00000216211.4:p.Phe226Leu | |
| ENST00000216211.8:c.678T>G | ENSP00000216211.4:p.Phe226Leu | |
| ENST00000396082.2:c.315T>G | ENSP00000379391.2:p.Phe105Leu | |
| NM_001167574.1:c.315T>G | NP_001161046.1:p.Phe105Leu | |
| NM_006953.3:c.678T>G | NP_008884.1:p.Phe226Leu | |
| XM_011530364.1:c.684T>G | XP_011528666.1:p.Phe228Leu | |
| XM_011530365.1:c.321T>G | XP_011528667.1:p.Phe107Leu | |
| NM_006953.4:c.678T>G MANE Select | NP_008884.1:p.Phe226Leu | |
| NM_001167574.2:c.315T>G | NP_001161046.1:p.Phe105Leu |