Revel Score:
ENST00000357555
0.833
ENST00000369062
0.833
ENST00000369061
0.833
ENST00000358487 (MANE Select)
0.833
ENST00000356226
0.833
ENST00000369060
0.833
ENST00000369059
0.833
ENST00000429361
0.833
ENST00000346997
0.833
ENST00000457416 (MANE Plus Clinical)
0.833
ENST00000351936
0.833
ENST00000360144
0.833
ENST00000369056
0.833
ENST00000369058
0.833
ENST00000336553
0.833
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121498522T>G , CM000672.2:g.121498522T>G | GRCh38 |
| NC_000010.10:g.123258036T>G , CM000672.1:g.123258036T>G | GRCh37 |
| NC_000010.9:g.123248026T>G | NCBI36 |
| NG_012449.1:g.104937A>C | |
| NG_012449.2:g.104937A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1648A>C MANE Plus Clinical | ENSP00000410294.2:p.Asn550His | |
| ENST00000351936.11:c.1639A>C | ENSP00000309878.10:p.Asn547His | |
| ENST00000638709.2:c.469A>C | ENSP00000491912.2:p.Asn157His | |
| ENST00000682296.1:n.987A>C | ||
| ENST00000682550.1:c.1294A>C | ENSP00000507633.1:p.Asn432His | |
| ENST00000682772.1:c.469A>C | ENSP00000506848.1:p.Asn157His | |
| ENST00000682904.1:n.465A>C | ||
| ENST00000683211.1:c.1639A>C | ENSP00000508257.1:p.Asn547His | |
| ENST00000683250.1:c.*347A>C | ENSP00000506847.1:n.*347A>C | |
| ENST00000683418.1:n.3986A>C | ||
| ENST00000684153.1:c.1294A>C | ENSP00000506937.1:p.Asn432His | |
| ENST00000684516.1:n.2658A>C | ||
| ENST00000358487.10:c.1645A>C MANE Select | ENSP00000351276.6:p.Asn549His | |
| ENST00000336553.10:c.1372A>C | ENSP00000337665.6:p.Asn458His | |
| ENST00000346997.6:c.1639A>C | ENSP00000263451.5:p.Asn547His | |
| ENST00000351936.10:c.1645A>C | ENSP00000309878.9:p.Asn549His | |
| ENST00000356226.8:c.1294A>C | ENSP00000348559.4:p.Asn432His | |
| ENST00000357555.9:c.1378A>C | ENSP00000350166.5:p.Asn460His | |
| ENST00000358487.9:c.1645A>C | ENSP00000351276.5:p.Asn549His | |
| ENST00000360144.7:c.1381A>C | ENSP00000353262.3:p.Asn461His | |
| ENST00000369056.5:c.1648A>C | ENSP00000358052.1:p.Asn550His | |
| ENST00000369058.7:c.1648A>C | ENSP00000358054.3:p.Asn550His | |
| ENST00000369059.5:c.1303A>C | ENSP00000358055.1:p.Asn435His | |
| ENST00000369060.8:c.1297A>C | ENSP00000358056.4:p.Asn433His | |
| ENST00000369061.8:c.1309A>C | ENSP00000358057.4:p.Asn437His | |
| ENST00000429361.5:c.421A>C | ENSP00000404219.1:p.Asn141His | |
| ENST00000457416.6:c.1648A>C | ENSP00000410294.2:p.Asn550His | |
| ENST00000478859.5:c.961A>C | ENSP00000474011.1:p.Asn321His | |
| ENST00000604236.5:c.*692A>C | ENSP00000474109.1:n.*692A>C | |
| ENST00000613048.4:c.1378A>C | ENSP00000484154.1:p.Asn460His | |
| NM_000141.4:c.1645A>C | NP_000132.3:p.Asn549His | |
| NM_001144913.1:c.1648A>C | NP_001138385.1:p.Asn550His | |
| NM_001144914.1:c.1309A>C | NP_001138386.1:p.Asn437His | |
| NM_001144915.1:c.1378A>C | NP_001138387.1:p.Asn460His | |
| NM_001144916.1:c.1300A>C | NP_001138388.1:p.Asn434His | |
| NM_001144917.1:c.1297A>C | NP_001138389.1:p.Asn433His | |
| NM_001144918.1:c.1294A>C | NP_001138390.1:p.Asn432His | |
| NM_001144919.1:c.1381A>C | NP_001138391.1:p.Asn461His | |
| NM_022970.3:c.1648A>C | NP_075259.4:p.Asn550His | |
| NM_023029.2:c.1378A>C | NP_075418.1:p.Asn460His | |
| NR_073009.1:n.2095A>C | ||
| XM_006717708.2:c.1699A>C | XP_006717771.1:p.Asn567His | |
| XM_006717709.2:c.1696A>C | XP_006717772.1:p.Asn566His | |
| XM_006717710.2:c.1705A>C | XP_006717773.1:p.Asn569His | |
| XM_006717711.2:c.1438A>C | XP_006717774.1:p.Asn480His | |
| XM_006717712.2:c.1360A>C | XP_006717775.1:p.Asn454His | |
| XM_006717713.2:c.1702A>C | XP_006717776.1:p.Asn568His | |
| XM_011539510.1:c.961A>C | XP_011537812.1:p.Asn321His | |
| NM_001320654.1:c.961A>C | NP_001307583.1:p.Asn321His | |
| NM_001320658.1:c.1639A>C | NP_001307587.1:p.Asn547His | |
| XM_006717708.3:c.1699A>C | XP_006717771.1:p.Asn567His | |
| XM_006717710.4:c.1705A>C | XP_006717773.1:p.Asn569His | |
| XM_017015920.2:c.1699A>C | XP_016871409.1:p.Asn567His | |
| XM_017015921.2:c.1696A>C | XP_016871410.1:p.Asn566His | |
| XM_017015924.2:c.1357A>C | XP_016871413.1:p.Asn453His | |
| XM_017015925.2:c.1351A>C | XP_016871414.1:p.Asn451His | |
| XM_024447887.1:c.1435A>C | XP_024303655.1:p.Asn479His | |
| XM_024447888.1:c.1432A>C | XP_024303656.1:p.Asn478His | |
| XM_024447889.1:c.1429A>C | XP_024303657.1:p.Asn477His | |
| XM_024447890.1:c.1438A>C | XP_024303658.1:p.Asn480His | |
| XM_024447891.1:c.1360A>C | XP_024303659.1:p.Asn454His | |
| XM_024447892.1:c.475A>C | XP_024303660.1:p.Asn159His | |
| NM_000141.5:c.1645A>C MANE Select | NP_000132.3:p.Asn549His | |
| NM_001144917.2:c.1297A>C | NP_001138389.1:p.Asn433His | |
| NM_001144918.2:c.1294A>C | NP_001138390.1:p.Asn432His | |
| NM_001144919.2:c.1381A>C | NP_001138391.1:p.Asn461His | |
| NM_001320658.2:c.1639A>C | NP_001307587.1:p.Asn547His | |
| NR_073009.2:n.2081A>C | ||
| NM_001144915.2:c.1378A>C | NP_001138387.1:p.Asn460His | |
| NM_001144916.2:c.1300A>C | NP_001138388.1:p.Asn434His | |
| NM_001320654.2:c.961A>C | NP_001307583.1:p.Asn321His |