Revel Score:
ENST00000244047
0.061
ENST00000348616 (MANE Select)
0.061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59972037A>T , CM000682.2:g.59972037A>T | GRCh38 |
| NC_000020.10:g.58547092A>T , CM000682.1:g.58547092A>T | GRCh37 |
| NC_000020.9:g.57980487A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348616.9:c.307A>T MANE Select | ENSP00000339390.4:p.Ile103Phe | |
| ENST00000348616.8:c.307A>T | ENSP00000339390.4:p.Ile103Phe | |
| NM_177980.2:c.307A>T | NP_817089.1:p.Ile103Phe | |
| XM_011528967.1:c.325A>T | XP_011527269.1:p.Ile109Phe | |
| XM_011528968.1:c.325A>T | XP_011527270.1:p.Ile109Phe | |
| XM_011528969.1:c.313A>T | XP_011527271.1:p.Ile105Phe | |
| NM_177980.3:c.307A>T | NP_817089.1:p.Ile103Phe | |
| NR_145482.1:n.656A>T | ||
| XM_011528969.3:c.313A>T | XP_011527271.1:p.Ile105Phe | |
| XM_017027994.2:c.325A>T | XP_016883483.1:p.Ile109Phe | |
| XM_017027995.2:c.325A>T | XP_016883484.1:p.Ile109Phe | |
| XM_017027996.2:c.245-19A>T | XP_016883485.1:n.245-19A>T | |
| XM_017027997.2:c.325A>T | XP_016883486.1:p.Ile109Phe | |
| XM_017027998.1:c.325A>T | XP_016883487.1:p.Ile109Phe | |
| XM_017027999.1:c.325A>T | XP_016883488.1:p.Ile109Phe | |
| XM_017028000.2:c.129+1856A>T | XP_016883489.1:n.129+1856A>T | |
| XM_017028001.1:c.325A>T | XP_016883490.1:p.Ile109Phe | |
| XM_017028002.1:c.325A>T | XP_016883491.1:p.Ile109Phe | |
| NM_177980.4:c.307A>T MANE Select | NP_817089.1:p.Ile103Phe | |
| NR_145482.2:n.629A>T |