Revel Score:
ENST00000487664
0.368
ENST00000298480
0.368
ENST00000371757 (MANE Select)
0.368
ENST00000486577
0.368
ENST00000491806
0.368
ENST00000488444
0.368
ENST00000490355
0.368
ENST00000263604
0.368
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765095G>A , CM000671.2:g.135765095G>A | GRCh38 |
| NC_000009.11:g.138656941G>A , CM000671.1:g.138656941G>A | GRCh37 |
| NC_000009.10:g.137796762G>A | NCBI36 |
| NG_033070.1:g.67911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1100G>A MANE Select | ENSP00000360822.2:p.Arg367His | |
| ENST00000674572.1:c.941G>A | ENSP00000501742.1:p.Arg314His | |
| ENST00000675090.1:c.848G>A | ENSP00000501833.1:p.Arg283His | |
| ENST00000675399.1:c.848G>A | ENSP00000501932.1:p.Arg283His | |
| ENST00000676421.1:c.857G>A | ENSP00000502322.1:p.Arg286His | |
| ENST00000263604.5:c.1001G>A | ENSP00000263604.4:p.Arg334His | |
| ENST00000371757.6:c.1100G>A | ENSP00000360822.2:p.Arg367His | |
| ENST00000460750.5:c.*710G>A | ENSP00000418777.1:n.*710G>A | |
| ENST00000486577.6:c.983G>A | ENSP00000417578.3:p.Arg328His | |
| ENST00000487664.5:c.1100G>A | ENSP00000417851.2:p.Arg367His | |
| ENST00000488444.6:c.1043G>A | ENSP00000419007.3:p.Arg348His | |
| ENST00000490355.6:c.1043G>A | ENSP00000418003.3:p.Arg348His | |
| ENST00000490363.3:n.919G>A | ||
| ENST00000491806.6:c.1043G>A | ENSP00000419086.3:p.Arg348His | |
| ENST00000628528.2:c.965G>A | ENSP00000486374.1:p.Arg322His | |
| ENST00000630792.2:c.941G>A | ENSP00000486486.1:p.Arg314His | |
| ENST00000631073.2:c.1043G>A | ENSP00000486130.1:p.Arg348His | |
| NM_001272003.1:c.965G>A | NP_001258932.1:p.Arg322His | |
| NM_020822.2:c.1100G>A | NP_065873.2:p.Arg367His | |
| XM_011518877.1:c.1235G>A | XP_011517179.1:p.Arg412His | |
| XM_011518878.1:c.1244G>A | XP_011517180.1:p.Arg415His | |
| XM_011518879.1:c.1235G>A | XP_011517181.1:p.Arg412His | |
| XM_011518880.1:c.1001G>A | XP_011517182.1:p.Arg334His | |
| XM_011518881.1:c.590G>A | XP_011517183.1:p.Arg197His | |
| XM_011518877.3:c.1235G>A | XP_011517179.1:p.Arg412His | |
| XM_011518878.3:c.1244G>A | XP_011517180.1:p.Arg415His | |
| XM_011518879.3:c.1235G>A | XP_011517181.1:p.Arg412His | |
| XM_011518881.3:c.590G>A | XP_011517183.1:p.Arg197His | |
| XM_017014931.1:c.1034G>A | XP_016870420.1:p.Arg345His | |
| XM_017014932.1:c.857G>A | XP_016870421.1:p.Arg286His | |
| XM_017014933.1:c.590G>A | XP_016870422.1:p.Arg197His | |
| XM_024447617.1:c.590G>A | XP_024303385.1:p.Arg197His | |
| XM_024447618.1:c.590G>A | XP_024303386.1:p.Arg197His | |
| NM_020822.3:c.1100G>A MANE Select | NP_065873.2:p.Arg367His | |
| NM_001272003.2:c.965G>A | NP_001258932.1:p.Arg322His |