Revel Score:
ENST00000375715
0.554
ENST00000375708 (MANE Select)
0.554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726693T>A , CM000671.2:g.91726693T>A | GRCh38 |
| NC_000009.11:g.94488975T>A , CM000671.1:g.94488975T>A | GRCh37 |
| NC_000009.10:g.93528796T>A | NCBI36 |
| NG_008089.1:g.228470A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1234A>T MANE Select | ENSP00000364860.3:p.Ile412Phe | |
| ENST00000375708.3:c.1234A>T | ENSP00000364860.3:p.Ile412Phe | |
| ENST00000375715.5:c.814A>T | ENSP00000364867.1:p.Ile272Phe | |
| ENST00000550066.5:n.1702A>T | ||
| NM_004560.3:c.1234A>T | NP_004551.2:p.Ile412Phe | |
| XM_005252008.3:c.814A>T | XP_005252065.1:p.Ile272Phe | |
| XM_005252009.3:c.31A>T | XP_005252066.1:p.Ile11Phe | |
| XM_006717121.2:c.814A>T | XP_006717184.1:p.Ile272Phe | |
| XM_011518721.1:c.814A>T | XP_011517023.1:p.Ile272Phe | |
| NM_001318204.1:c.1200A>T | NP_001305133.1:p.Ala400= | |
| XM_005252008.4:c.814A>T | XP_005252065.1:p.Ile272Phe | |
| XM_006717121.3:c.814A>T | XP_006717184.1:p.Ile272Phe | |
| XM_017014762.1:c.1225A>T | XP_016870251.1:p.Ile409Phe | |
| XM_017014763.1:c.814A>T | XP_016870252.1:p.Ile272Phe | |
| XR_001746315.1:n.1443A>T | ||
| NM_004560.4:c.1234A>T MANE Select | NP_004551.2:p.Ile412Phe | |
| NM_001318204.2:c.1200A>T | NP_001305133.1:p.Ala400= |