Revel Score:
ENST00000375715
0.672
ENST00000375708 (MANE Select)
0.672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726703C>A , CM000671.2:g.91726703C>A | GRCh38 |
| NC_000009.11:g.94488985C>A , CM000671.1:g.94488985C>A | GRCh37 |
| NC_000009.10:g.93528806C>A | NCBI36 |
| NG_008089.1:g.228460G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1224G>T MANE Select | ENSP00000364860.3:p.Leu408Phe | |
| ENST00000375708.3:c.1224G>T | ENSP00000364860.3:p.Leu408Phe | |
| ENST00000375715.5:c.804G>T | ENSP00000364867.1:p.Leu268Phe | |
| ENST00000550066.5:n.1692G>T | ||
| NM_004560.3:c.1224G>T | NP_004551.2:p.Leu408Phe | |
| XM_005252008.3:c.804G>T | XP_005252065.1:p.Leu268Phe | |
| XM_005252009.3:c.21G>T | XP_005252066.1:p.Leu7Phe | |
| XM_006717121.2:c.804G>T | XP_006717184.1:p.Leu268Phe | |
| XM_011518721.1:c.804G>T | XP_011517023.1:p.Leu268Phe | |
| NM_001318204.1:c.1190G>T | NP_001305133.1:p.Trp397Leu | |
| XM_005252008.4:c.804G>T | XP_005252065.1:p.Leu268Phe | |
| XM_006717121.3:c.804G>T | XP_006717184.1:p.Leu268Phe | |
| XM_017014762.1:c.1215G>T | XP_016870251.1:p.Leu405Phe | |
| XM_017014763.1:c.804G>T | XP_016870252.1:p.Leu268Phe | |
| XR_001746315.1:n.1433G>T | ||
| NM_004560.4:c.1224G>T MANE Select | NP_004551.2:p.Leu408Phe | |
| NM_001318204.2:c.1190G>T | NP_001305133.1:p.Trp397Leu |