Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955956T>G , CM000670.2:g.19955956T>G | GRCh38 |
| NC_000008.10:g.19813467T>G , CM000670.1:g.19813467T>G | GRCh37 |
| NC_000008.9:g.19857747T>G | NCBI36 |
| NG_008855.1:g.21886T>G | |
| NG_008855.2:g.59240T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.891T>G MANE Select | ENSP00000497642.1:p.Phe297Leu | |
| ENST00000311322.8:c.891T>G | ENSP00000309757.6:p.Phe297Leu | |
| NM_000237.2:c.891T>G | NP_000228.1:p.Phe297Leu | |
| NM_000237.3:c.891T>G MANE Select | NP_000228.1:p.Phe297Leu |