Revel Score:
ENST00000324288 (MANE Select)
0.071
ENST00000388910
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069857 (AFR)
Genomes Max Group AF
0.00066552 (AFR)
Exomes Max Group AF
0.00059247 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10908143G>A , CM000678.2:g.10908143G>A | GRCh38 |
| NC_000016.9:g.11002000G>A , CM000678.1:g.11002000G>A | GRCh37 |
| NC_000016.8:g.10909501G>A | NCBI36 |
| NG_009628.1:g.35946G>A , LRG_49:g.35946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.2545G>A | ||
| ENST00000324288.14:c.2651G>A MANE Select | ENSP00000316328.8:p.Arg884His | |
| ENST00000324288.12:c.2651G>A | ENSP00000316328.8:p.Arg884His | |
| ENST00000381835.9:c.860-840G>A | ENSP00000371257.5:n.860-840G>A | |
| ENST00000537380.1:n.1007-2045G>A | ||
| ENST00000570546.5:n.2772G>A | ||
| ENST00000573309.5:n.2622G>A | ||
| ENST00000611587.4:c.2507G>A | ENSP00000483487.1:p.Arg836His | |
| ENST00000618207.4:c.1007-2045G>A | ENSP00000484761.1:n.1007-2045G>A | |
| ENST00000618327.4:c.2654G>A | ENSP00000485010.1:p.Arg885His | |
| NM_000246.3:c.2651G>A , LRG_49t1:c.2651G>A | NP_000237.2:p.Arg884His | |
| NM_001286402.1:c.2654G>A | NP_001273331.1:p.Arg885His | |
| NM_001286403.1:c.860-840G>A | NP_001273332.1:n.860-840G>A | |
| NR_104444.1:n.1140-2045G>A | ||
| XM_006720880.2:c.2948G>A | XP_006720943.2:p.Arg983His | |
| XM_011522484.1:c.2948G>A | XP_011520786.1:p.Arg983His | |
| XM_011522485.1:c.2948G>A | XP_011520787.1:p.Arg983His | |
| XM_011522486.1:c.2948G>A | XP_011520788.1:p.Arg983His | |
| XM_011522487.1:c.2702G>A | XP_011520789.1:p.Arg901His | |
| XM_011522488.1:c.2699G>A | XP_011520790.1:p.Arg900His | |
| XM_011522489.1:c.2699G>A | XP_011520791.1:p.Arg900His | |
| XM_011522490.1:c.2696G>A | XP_011520792.1:p.Arg899His | |
| XM_011522491.1:c.2948G>A | XP_011520793.1:p.Arg983His | |
| XM_011522492.1:c.2654G>A | XP_011520794.1:p.Arg885His | |
| XM_011522493.1:c.2651G>A | XP_011520795.1:p.Arg884His | |
| XM_011522494.1:c.2582G>A | XP_011520796.1:p.Arg861His | |
| XM_011522495.1:c.2507G>A | XP_011520797.1:p.Arg836His | |
| XM_011522496.1:c.2504G>A | XP_011520798.1:p.Arg835His | |
| XR_932841.1:n.2963G>A | ||
| XR_932842.1:n.2963G>A | ||
| XR_932843.1:n.2963G>A | ||
| XR_932846.1:n.2963G>A | ||
| XR_932847.1:n.2963G>A | ||
| XR_932848.1:n.1010-840G>A | ||
| XM_006720880.3:c.2948G>A | XP_006720943.2:p.Arg983His | |
| XM_011522484.3:c.2948G>A | XP_011520786.1:p.Arg983His | |
| XM_011522485.2:c.2948G>A | XP_011520787.1:p.Arg983His | |
| XM_011522486.2:c.2948G>A | XP_011520788.1:p.Arg983His | |
| XM_011522487.2:c.2702G>A | XP_011520789.1:p.Arg901His | |
| XM_011522488.2:c.2699G>A | XP_011520790.1:p.Arg900His | |
| XM_011522489.2:c.2699G>A | XP_011520791.1:p.Arg900His | |
| XM_011522490.2:c.2696G>A | XP_011520792.1:p.Arg899His | |
| XM_011522491.2:c.2948G>A | XP_011520793.1:p.Arg983His | |
| XM_011522492.2:c.2654G>A | XP_011520794.1:p.Arg885His | |
| XM_011522493.2:c.2651G>A | XP_011520795.1:p.Arg884His | |
| XM_011522494.2:c.2582G>A | XP_011520796.1:p.Arg861His | |
| XM_011522495.2:c.2507G>A | XP_011520797.1:p.Arg836His | |
| XM_011522496.2:c.2504G>A | XP_011520798.1:p.Arg835His | |
| XM_024450280.1:c.2894G>A | XP_024306048.1:p.Arg965His | |
| XM_024450281.1:c.2747G>A | XP_024306049.1:p.Arg916His | |
| XR_001751904.1:n.2967G>A | ||
| XR_932841.3:n.2965G>A | ||
| XR_932842.2:n.2965G>A | ||
| XR_932846.3:n.2967G>A | ||
| XR_932847.3:n.2967G>A | ||
| NM_001286403.2:c.860-840G>A | NP_001273332.1:n.860-840G>A | |
| NR_104444.2:n.1136-2045G>A | ||
| NM_000246.4:c.2651G>A MANE Select | NP_000237.2:p.Arg884His | |
| NM_001379330.1:c.2507G>A | NP_001366259.1:p.Arg836His | |
| NM_001379331.1:c.2504G>A | NP_001366260.1:p.Arg835His | |
| NM_001379332.1:c.2654G>A | NP_001366261.1:p.Arg885His | |
| NM_001379333.1:c.2651G>A | NP_001366262.1:p.Arg884His | |
| NM_001379334.1:c.2582G>A | NP_001366263.1:p.Arg861His |