Revel Score:
ENST00000375715
0.244
ENST00000375708 (MANE Select)
0.244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726594T>C , CM000671.2:g.91726594T>C | GRCh38 |
| NC_000009.11:g.94488876T>C , CM000671.1:g.94488876T>C | GRCh37 |
| NC_000009.10:g.93528697T>C | NCBI36 |
| NG_008089.1:g.228569A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1333A>G MANE Select | ENSP00000364860.3:p.Met445Val | |
| ENST00000375708.3:c.1333A>G | ENSP00000364860.3:p.Met445Val | |
| ENST00000375715.5:c.913A>G | ENSP00000364867.1:p.Met305Val | |
| ENST00000550066.5:n.1801A>G | ||
| NM_004560.3:c.1333A>G | NP_004551.2:p.Met445Val | |
| XM_005252008.3:c.913A>G | XP_005252065.1:p.Met305Val | |
| XM_005252009.3:c.130A>G | XP_005252066.1:p.Met44Val | |
| XM_006717121.2:c.913A>G | XP_006717184.1:p.Met305Val | |
| XM_011518721.1:c.913A>G | XP_011517023.1:p.Met305Val | |
| NM_001318204.1:c.1299A>G | NP_001305133.1:p.Ter433Trp | |
| XM_005252008.4:c.913A>G | XP_005252065.1:p.Met305Val | |
| XM_006717121.3:c.913A>G | XP_006717184.1:p.Met305Val | |
| XM_017014762.1:c.1324A>G | XP_016870251.1:p.Met442Val | |
| XM_017014763.1:c.913A>G | XP_016870252.1:p.Met305Val | |
| XR_001746315.1:n.1542A>G | ||
| NM_004560.4:c.1333A>G MANE Select | NP_004551.2:p.Met445Val | |
| NM_001318204.2:c.1299A>G | NP_001305133.1:p.Ter433Trp |