Revel Score:
ENST00000487664
0.817
ENST00000298480
0.817
ENST00000371757 (MANE Select)
0.817
ENST00000486577
0.817
ENST00000491806
0.817
ENST00000488444
0.817
ENST00000490355
0.817
ENST00000263604
0.817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135777374T>C , CM000671.2:g.135777374T>C | GRCh38 |
| NC_000009.11:g.138669220T>C , CM000671.1:g.138669220T>C | GRCh37 |
| NC_000009.10:g.137809041T>C | NCBI36 |
| NG_033070.1:g.80190T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2386T>C MANE Select | ENSP00000360822.2:p.Tyr796His | |
| ENST00000674572.1:c.2227T>C | ENSP00000501742.1:p.Tyr743His | |
| ENST00000675090.1:c.2134T>C | ENSP00000501833.1:p.Tyr712His | |
| ENST00000675102.1:n.1001T>C | ||
| ENST00000675399.1:c.2134T>C | ENSP00000501932.1:p.Tyr712His | |
| ENST00000676421.1:c.2143T>C | ENSP00000502322.1:p.Tyr715His | |
| ENST00000263604.5:c.2287T>C | ENSP00000263604.4:p.Tyr763His | |
| ENST00000371757.6:c.2386T>C | ENSP00000360822.2:p.Tyr796His | |
| ENST00000460750.5:c.*1996T>C | ENSP00000418777.1:n.*1996T>C | |
| ENST00000486577.6:c.2269T>C | ENSP00000417578.3:p.Tyr757His | |
| ENST00000487664.5:c.2386T>C | ENSP00000417851.2:p.Tyr796His | |
| ENST00000488444.6:c.2329T>C | ENSP00000419007.3:p.Tyr777His | |
| ENST00000490355.6:c.2323T>C | ENSP00000418003.3:p.Tyr775His | |
| ENST00000490363.3:n.2205T>C | ||
| ENST00000491806.6:c.2329T>C | ENSP00000419086.3:p.Tyr777His | |
| ENST00000628528.2:c.2251T>C | ENSP00000486374.1:p.Tyr751His | |
| ENST00000630792.2:c.2221T>C | ENSP00000486486.1:p.Tyr741His | |
| ENST00000631073.2:c.2329T>C | ENSP00000486130.1:p.Tyr777His | |
| ENST00000631193.1:c.235T>C | ENSP00000486830.1:p.Tyr79His | |
| NM_001272003.1:c.2251T>C | NP_001258932.1:p.Tyr751His | |
| NM_020822.2:c.2386T>C | NP_065873.2:p.Tyr796His | |
| XM_011518877.1:c.2521T>C | XP_011517179.1:p.Tyr841His | |
| XM_011518878.1:c.2530T>C | XP_011517180.1:p.Tyr844His | |
| XM_011518879.1:c.2521T>C | XP_011517181.1:p.Tyr841His | |
| XM_011518880.1:c.2287T>C | XP_011517182.1:p.Tyr763His | |
| XM_011518881.1:c.1876T>C | XP_011517183.1:p.Tyr626His | |
| XM_011518877.3:c.2521T>C | XP_011517179.1:p.Tyr841His | |
| XM_011518878.3:c.2530T>C | XP_011517180.1:p.Tyr844His | |
| XM_011518879.3:c.2521T>C | XP_011517181.1:p.Tyr841His | |
| XM_011518881.3:c.1876T>C | XP_011517183.1:p.Tyr626His | |
| XM_017014931.1:c.2320T>C | XP_016870420.1:p.Tyr774His | |
| XM_017014932.1:c.2143T>C | XP_016870421.1:p.Tyr715His | |
| XM_017014933.1:c.1876T>C | XP_016870422.1:p.Tyr626His | |
| XM_024447617.1:c.1876T>C | XP_024303385.1:p.Tyr626His | |
| XM_024447618.1:c.1876T>C | XP_024303386.1:p.Tyr626His | |
| NM_020822.3:c.2386T>C MANE Select | NP_065873.2:p.Tyr796His | |
| NM_001272003.2:c.2251T>C | NP_001258932.1:p.Tyr751His |