Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144917G>C , CM000670.2:g.96144917G>C | GRCh38 |
| NC_000008.10:g.97157145G>C , CM000670.1:g.97157145G>C | GRCh37 |
| NC_000008.9:g.97226321G>C | NCBI36 |
| NG_008981.1:g.20876C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.1014C>G MANE Select | ENSP00000287020.4:p.Phe338Leu | |
| ENST00000287020.6:c.1014C>G | ENSP00000287020.4:p.Phe338Leu | |
| ENST00000620978.1:c.793+159C>G | ENSP00000480170.1:n.793+159C>G | |
| ENST00000621429.1:c.875-112C>G | ENSP00000483711.1:n.875-112C>G | |
| NM_001001557.2:c.1014C>G | NP_001001557.1:p.Phe338Leu | |
| XM_011517030.1:c.615C>G | XP_011515332.1:p.Phe205Leu | |
| NM_001001557.3:c.1014C>G | NP_001001557.1:p.Phe338Leu | |
| NM_001001557.4:c.1014C>G MANE Select | NP_001001557.1:p.Phe338Leu |