Revel Score:
ENST00000320580 (MANE Select)
0.325
ENST00000533756
0.325
ENST00000527380
0.325
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211215T>G , CM000673.2:g.66211215T>G | GRCh38 |
| NC_000011.9:g.65978686T>G , CM000673.1:g.65978686T>G | GRCh37 |
| NC_000011.8:g.65735262T>G | NCBI36 |
| NG_033900.1:g.145863T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.616T>G MANE Select | ENSP00000316454.4:p.Leu206Val | |
| ENST00000320580.8:c.616T>G | ENSP00000316454.4:p.Leu206Val | |
| ENST00000527224.1:n.740T>G | ||
| ENST00000527380.1:c.322T>G | ENSP00000432639.1:p.Leu108Val | |
| ENST00000533756.5:c.307T>G | ENSP00000437150.1:p.Leu103Val | |
| NM_018026.3:c.616T>G | NP_060496.2:p.Leu206Val | |
| XM_011545162.1:c.295T>G | XP_011543464.1:p.Leu99Val | |
| XM_011545163.1:c.286T>G | XP_011543465.1:p.Leu96Val | |
| XM_011545164.1:c.277T>G | XP_011543466.1:p.Leu93Val | |
| XM_011545164.2:c.277T>G | XP_011543466.1:p.Leu93Val | |
| XR_001747924.1:n.827T>G | ||
| NM_018026.4:c.616T>G MANE Select | NP_060496.2:p.Leu206Val |