Revel Score:
ENST00000315212 (MANE Select)
0.591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3549068G>A , CM000664.2:g.3549068G>A | GRCh38 |
| NC_000002.11:g.3596658G>A , CM000664.1:g.3596658G>A | GRCh37 |
| NC_000002.10:g.3574533G>A | NCBI36 |
| NG_051310.1:g.14304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315212.4:c.554C>T MANE Select | ENSP00000313350.3:p.Ala185Val | |
| ENST00000654051.1:c.554C>T | ENSP00000499604.1:p.Ala185Val | |
| ENST00000658393.1:c.554C>T | ENSP00000499330.1:p.Ala185Val | |
| ENST00000315212.3:c.554C>T | ENSP00000313350.3:p.Ala185Val | |
| ENST00000436842.5:c.*660C>T | ENSP00000404926.1:n.*660C>T | |
| NM_001286834.1:c.476C>T | NP_001273763.1:p.Ala159Val | |
| NM_001286837.1:c.203C>T | NP_001273766.1:p.Ala68Val | |
| NM_002936.4:c.554C>T | NP_002927.2:p.Ala185Val | |
| XR_244873.1:n.661C>T | ||
| XR_922665.1:n.661C>T | ||
| XR_922666.1:n.661C>T | ||
| XR_922667.1:n.661C>T | ||
| XR_922668.1:n.661C>T | ||
| XR_922669.1:n.661C>T | ||
| XR_922670.1:n.661C>T | ||
| XR_922671.1:n.661C>T | ||
| XR_922672.1:n.661C>T | ||
| XR_922673.1:n.661C>T | ||
| XR_922674.1:n.661C>T | ||
| NM_001286834.2:c.476C>T | NP_001273763.1:p.Ala159Val | |
| NM_001286837.2:c.203C>T | NP_001273766.1:p.Ala68Val | |
| NM_002936.5:c.554C>T | NP_002927.2:p.Ala185Val | |
| NR_148532.1:n.665C>T | ||
| NR_148533.1:n.665C>T | ||
| NR_148534.1:n.665C>T | ||
| NM_001286837.3:c.203C>T | NP_001273766.1:p.Ala68Val | |
| NR_148532.2:n.627C>T | ||
| NR_148533.2:n.627C>T | ||
| NR_148534.2:n.627C>T | ||
| NM_001286834.3:c.476C>T | NP_001273763.1:p.Ala159Val | |
| NM_001378271.1:c.554C>T | NP_001365200.1:p.Ala185Val | |
| NM_001378272.1:c.551C>T | NP_001365201.1:p.Ala184Val | |
| NM_001378273.1:c.539C>T | NP_001365202.1:p.Ala180Val | |
| NM_002936.6:c.554C>T MANE Select | NP_002927.2:p.Ala185Val | |
| NR_165465.1:n.511C>T | ||
| NR_165466.1:n.596C>T | ||
| NR_165467.1:n.796C>T | ||
| NR_165468.1:n.599C>T |