Revel Score:
ENST00000292408 (MANE Select)
0.396
ENST00000503708
0.396
ENST00000393648
0.396
ENST00000514472
0.396
ENST00000502906
0.396
ENST00000292410
0.396
ENST00000510911
0.396
ENST00000513166
0.396
ENST00000393637
0.396
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177089630G>T , CM000667.2:g.177089630G>T | GRCh38 |
| NC_000005.9:g.176516631G>T , CM000667.1:g.176516631G>T | GRCh37 |
| NC_000005.8:g.176449237G>T | NCBI36 |
| NG_012067.1:g.7711G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.28G>T MANE Select | ENSP00000292408.4:p.Val10Phe | |
| ENST00000292408.8:c.28G>T | ENSP00000292408.4:p.Val10Phe | |
| ENST00000393637.5:c.28G>T | ENSP00000377254.1:p.Val10Phe | |
| ENST00000393648.6:c.28G>T | ENSP00000377259.2:p.Val10Phe | |
| ENST00000426612.5:n.33G>T | ||
| ENST00000430285.5:c.28G>T | ENSP00000395164.1:p.Val10Phe | |
| ENST00000502906.5:c.28G>T | ENSP00000424960.1:p.Val10Phe | |
| ENST00000503708.5:c.28G>T | ENSP00000424905.1:p.Val10Phe | |
| ENST00000507708.1:n.184G>T | ||
| ENST00000509511.5:n.28G>T | ||
| ENST00000510911.5:c.28G>T | ENSP00000427222.1:p.Val10Phe | |
| ENST00000513166.1:c.28G>T | ENSP00000422889.1:p.Val10Phe | |
| ENST00000514472.1:c.28G>T | ENSP00000426492.1:p.Val10Phe | |
| NM_001291980.1:c.28G>T | NP_001278909.1:p.Val10Phe | |
| NM_002011.4:c.28G>T | NP_002002.3:p.Val10Phe | |
| NM_022963.3:c.28G>T | NP_075252.2:p.Val10Phe | |
| NM_213647.2:c.28G>T | NP_998812.1:p.Val10Phe | |
| XM_005265838.2:c.28G>T | XP_005265895.1:p.Val10Phe | |
| XM_011534464.1:c.121G>T | XP_011532766.1:p.Val41Phe | |
| XM_011534465.1:c.-346G>T | XP_011532767.1:n.-346G>T | |
| XR_941090.1:n.73G>T | ||
| NM_001354984.1:c.28G>T | NP_001341913.1:p.Val10Phe | |
| NM_213647.3:c.28G>T MANE Select | NP_998812.1:p.Val10Phe | |
| NM_001291980.2:c.28G>T | NP_001278909.1:p.Val10Phe | |
| NM_001354984.2:c.28G>T | NP_001341913.1:p.Val10Phe | |
| NM_002011.5:c.28G>T | NP_002002.3:p.Val10Phe |