Revel Score:
ENST00000372468
0.114
ENST00000372470 (MANE Select)
0.114
ENST00000413998
0.114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338644T>A , CM000663.2:g.43338644T>A | GRCh38 |
| NC_000001.10:g.43804315T>A , CM000663.1:g.43804315T>A | GRCh37 |
| NC_000001.9:g.43576902T>A | NCBI36 |
| NG_007525.1:g.5841T>A , LRG_510:g.5841T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.315T>A MANE Select | ENSP00000361548.3:p.Phe105Leu | |
| ENST00000413998.7:c.294T>A | ENSP00000414004.3:p.Phe98Leu | |
| ENST00000638732.1:n.315T>A | ||
| ENST00000372470.7:c.315T>A | ENSP00000361548.3:p.Phe105Leu | |
| ENST00000413998.6:c.315T>A | ENSP00000414004.2:p.Phe105Leu | |
| ENST00000612993.1:c.315T>A | ENSP00000480273.1:p.Phe105Leu | |
| NM_005373.2:c.315T>A , LRG_510t1:c.315T>A | NP_005364.1:p.Phe105Leu | |
| XM_011541478.1:c.294T>A | XP_011539780.1:p.Phe98Leu | |
| XM_017001320.1:c.486T>A | XP_016856809.1:p.Phe162Leu | |
| NM_005373.3:c.315T>A MANE Select | NP_005364.1:p.Phe105Leu |