Revel Score:
ENST00000359596 (MANE Select)
0.900
ENST00000355481
0.900
ENST00000360985
0.900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585055C>T , CM000681.2:g.38585055C>T | GRCh38 |
| NC_000019.9:g.39075695C>T , CM000681.1:g.39075695C>T | GRCh37 |
| NC_000019.8:g.43767535C>T | NCBI36 |
| NG_008866.1:g.156356C>T , LRG_766:g.156356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1695C>T | ||
| ENST00000688602.1:c.3092C>T | ||
| ENST00000689936.1:c.3064C>T | ||
| ENST00000692547.1:n.152C>T | ||
| ENST00000359596.8:c.14759C>T MANE Select | ENSP00000352608.2:p.Thr4920Ile | |
| ENST00000355481.8:c.14744C>T | ENSP00000347667.3:p.Thr4915Ile | |
| ENST00000359596.7:c.14759C>T | ENSP00000352608.2:p.Thr4920Ile | |
| ENST00000360985.7:c.14741C>T | ENSP00000354254.4:p.Thr4914Ile | |
| NM_000540.2:c.14759C>T , LRG_766t1:c.14759C>T | NP_000531.2:p.Thr4920Ile | |
| NM_001042723.1:c.14744C>T | NP_001036188.1:p.Thr4915Ile | |
| XM_006723317.1:c.14741C>T | XP_006723380.1:p.Thr4914Ile | |
| XM_006723319.1:c.14726C>T | XP_006723382.1:p.Thr4909Ile | |
| XM_011527204.1:c.14756C>T | XP_011525506.1:p.Thr4919Ile | |
| XM_011527205.1:c.14672C>T | XP_011525507.1:p.Thr4891Ile | |
| XM_006723317.2:c.14741C>T | XP_006723380.1:p.Thr4914Ile | |
| XM_006723319.2:c.14726C>T | XP_006723382.1:p.Thr4909Ile | |
| XM_011527205.2:c.14672C>T | XP_011525507.1:p.Thr4891Ile | |
| NM_000540.3:c.14759C>T MANE Select | NP_000531.2:p.Thr4920Ile | |
| NM_001042723.2:c.14744C>T | NP_001036188.1:p.Thr4915Ile |