Revel Score:
ENST00000395615
0.846
ENST00000261499 (MANE Select)
0.846
ENST00000395616
0.846
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19343796G>A , CM000679.2:g.19343796G>A | GRCh38 |
| NC_000017.10:g.19247109G>A , CM000679.1:g.19247109G>A | GRCh37 |
| NC_000017.9:g.19187702G>A | NCBI36 |
| NG_031885.1:g.39387C>T | |
| NG_031885.2:g.39398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261499.11:c.466C>T MANE Select | ENSP00000261499.4:p.Arg156Trp | |
| ENST00000261499.10:c.466C>T | ENSP00000261499.4:p.Arg156Trp | |
| ENST00000477478.7:c.106C>T | ENSP00000460939.2:p.Arg36Trp | |
| ENST00000575478.7:c.106C>T | ENSP00000458525.3:p.Arg36Trp | |
| ENST00000582857.2:c.106C>T | ENSP00000463165.2:p.Arg36Trp | |
| ENST00000642870.2:c.106C>T | ENSP00000496409.2:p.Arg36Trp | |
| ENST00000646248.1:c.259C>T | ENSP00000493599.1:p.Arg87Trp | |
| ENST00000647056.1:c.*80C>T | ENSP00000496502.1:n.*80C>T | |
| ENST00000647252.1:c.466C>T | ENSP00000495045.1:p.Arg156Trp | |
| ENST00000663089.1:c.529C>T | ENSP00000499469.1:p.Arg177Trp | |
| ENST00000671102.1:c.529C>T | ENSP00000499690.1:p.Arg177Trp | |
| ENST00000674596.1:c.291C>T | ENSP00000501877.1:p.Ala97= | |
| ENST00000675510.1:c.404+3473C>T | ENSP00000501817.1:n.404+3473C>T | |
| ENST00000261499.8:c.466C>T | ENSP00000261499.4:p.Arg156Trp | |
| ENST00000395615.5:c.466C>T | ENSP00000378977.1:p.Arg156Trp | |
| ENST00000395616.7:c.466C>T | ENSP00000378978.3:p.Arg156Trp | |
| ENST00000461069.6:c.466C>T | ENSP00000433359.2:p.Arg156Trp | |
| ENST00000477478.6:c.393C>T | ENSP00000460939.1:p.Ala131= | |
| ENST00000575403.5:c.393C>T | ENSP00000459857.1:p.Ala131= | |
| ENST00000575478.5:c.393C>T | ENSP00000458525.1:p.Ala131= | |
| NM_001243473.1:c.525C>T | NP_001230402.1:p.Ala175= | |
| NM_001243475.1:c.393C>T | NP_001230404.1:p.Ala131= | |
| NM_015681.3:c.466C>T | NP_056496.1:p.Arg156Trp | |
| XM_005256605.2:c.466C>T | XP_005256662.1:p.Arg156Trp | |
| XM_005256607.2:c.466C>T | XP_005256664.1:p.Arg156Trp | |
| XM_005256608.2:c.404+3473C>T | XP_005256665.1:n.404+3473C>T | |
| XM_011523793.1:c.466C>T | XP_011522095.1:p.Arg156Trp | |
| XM_011523794.1:c.466C>T | XP_011522096.1:p.Arg156Trp | |
| NM_001243473.2:c.525C>T | NP_001230402.1:p.Ala175= | |
| NM_001243475.2:c.393C>T | NP_001230404.1:p.Ala131= | |
| NM_001321214.1:c.466C>T | NP_001308143.1:p.Arg156Trp | |
| NM_001321215.1:c.466C>T | NP_001308144.1:p.Arg156Trp | |
| NM_001321217.1:c.466C>T | NP_001308146.1:p.Arg156Trp | |
| NM_001321218.1:c.466C>T | NP_001308147.1:p.Arg156Trp | |
| NM_001321219.1:c.404+3473C>T | NP_001308148.1:n.404+3473C>T | |
| NM_001330149.1:c.466C>T | NP_001317078.1:p.Arg156Trp | |
| NM_015681.4:c.466C>T | NP_056496.1:p.Arg156Trp | |
| NM_001321214.2:c.466C>T | NP_001308143.1:p.Arg156Trp | |
| NM_001321215.2:c.466C>T | NP_001308144.1:p.Arg156Trp | |
| NM_001321217.2:c.466C>T | NP_001308146.1:p.Arg156Trp | |
| NM_001321218.2:c.466C>T | NP_001308147.1:p.Arg156Trp | |
| NM_001321219.2:c.404+3473C>T | NP_001308148.1:n.404+3473C>T | |
| NM_001368769.2:c.106C>T | NP_001355698.1:p.Arg36Trp | |
| NM_015681.5:c.466C>T | NP_056496.1:p.Arg156Trp | |
| NM_001321215.3:c.466C>T | NP_001308144.1:p.Arg156Trp | |
| NM_001330149.2:c.466C>T | NP_001317078.1:p.Arg156Trp | |
| NM_015681.6:c.466C>T MANE Select | NP_056496.1:p.Arg156Trp |