Revel Score:
ENST00000359596 (MANE Select)
0.980
ENST00000355481
0.980
ENST00000360985
0.980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38570650T>G , CM000681.2:g.38570650T>G | GRCh38 |
| NC_000019.9:g.39061290T>G , CM000681.1:g.39061290T>G | GRCh37 |
| NC_000019.8:g.43753130T>G | NCBI36 |
| NG_008866.1:g.141951T>G , LRG_766:g.141951T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.639T>G | ||
| ENST00000688602.1:c.2036T>G | ||
| ENST00000689936.1:c.2052-1369T>G | ||
| ENST00000359596.8:c.13703T>G MANE Select | ENSP00000352608.2:p.Leu4568Arg | |
| ENST00000355481.8:c.13688T>G | ENSP00000347667.3:p.Leu4563Arg | |
| ENST00000359596.7:c.13703T>G | ENSP00000352608.2:p.Leu4568Arg | |
| ENST00000360985.7:c.13685T>G | ENSP00000354254.4:p.Leu4562Arg | |
| ENST00000593677.1:c.207-1369T>G | ||
| NM_000540.2:c.13703T>G , LRG_766t1:c.13703T>G | NP_000531.2:p.Leu4568Arg | |
| NM_001042723.1:c.13688T>G | NP_001036188.1:p.Leu4563Arg | |
| XM_006723317.1:c.13685T>G | XP_006723380.1:p.Leu4562Arg | |
| XM_006723319.1:c.13670T>G | XP_006723382.1:p.Leu4557Arg | |
| XM_011527204.1:c.13700T>G | XP_011525506.1:p.Leu4567Arg | |
| XM_011527205.1:c.13660-1369T>G | XP_011525507.1:n.13660-1369T>G | |
| XM_006723317.2:c.13685T>G | XP_006723380.1:p.Leu4562Arg | |
| XM_006723319.2:c.13670T>G | XP_006723382.1:p.Leu4557Arg | |
| XM_011527205.2:c.13660-1369T>G | XP_011525507.1:n.13660-1369T>G | |
| NM_000540.3:c.13703T>G MANE Select | NP_000531.2:p.Leu4568Arg | |
| NM_001042723.2:c.13688T>G | NP_001036188.1:p.Leu4563Arg |