Revel Score:
ENST00000337432 (MANE Select)
0.186
ENST00000413590
0.609
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010254 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Exomes Max Group AF
0.00013989 (AFR)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734193C>T , CM000679.2:g.58734193C>T | GRCh38 |
| NC_000017.10:g.56811554C>T , CM000679.1:g.56811554C>T | GRCh37 |
| NC_000017.9:g.54166553C>T | NCBI36 |
| NG_023199.1:g.46592C>T , LRG_314:g.46592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1634C>T | ENSP00000464056.2:n.*1634C>T | |
| ENST00000697680.1:c.*2066C>T | ENSP00000513392.1:n.*2066C>T | |
| ENST00000697681.1:c.*2263C>T | ENSP00000513393.1:n.*2263C>T | |
| ENST00000697683.1:c.*2038C>T | ENSP00000513395.1:n.*2038C>T | |
| ENST00000697685.1:c.*1799C>T | ENSP00000513396.1:n.*1799C>T | |
| ENST00000697686.1:c.*12C>T | ENSP00000513397.1:n.*12C>T | |
| ENST00000697689.1:c.*1516C>T | ENSP00000513398.1:n.*1516C>T | |
| ENST00000697690.1:c.*62C>T | ENSP00000513399.1:n.*62C>T | |
| ENST00000697691.1:c.*1074C>T | ENSP00000513400.1:n.*1074C>T | |
| ENST00000697692.1:c.*1114C>T | ENSP00000513401.1:n.*1114C>T | |
| ENST00000697694.1:c.751C>T | ENSP00000513402.1:p.Arg251Trp | |
| ENST00000697695.1:n.1709C>T | ||
| ENST00000337432.9:c.1102C>T MANE Select | ENSP00000336701.4:p.Arg368Trp | |
| ENST00000337432.8:c.1102C>T | ENSP00000336701.4:p.Arg368Trp | |
| ENST00000413590.5:c.743C>T | ||
| ENST00000461706.1:n.289C>T | ||
| ENST00000475762.5:c.*1738C>T | ENSP00000432421.1:n.*1738C>T | |
| ENST00000482007.5:c.*530C>T | ENSP00000433332.1:n.*530C>T | |
| ENST00000487525.5:c.*678C>T | ENSP00000431637.1:n.*678C>T | |
| ENST00000578151.1:n.315C>T | ||
| ENST00000581221.5:n.617C>T | ||
| ENST00000584804.1:c.336C>T | ENSP00000463658.1:n.336C>T | |
| NM_058216.2:c.1102C>T | NP_478123.1:p.Arg368Trp | |
| NR_103872.1:n.1006C>T | ||
| XM_006722001.2:c.1105C>T | XP_006722064.1:p.Arg369Trp | |
| XM_006722002.2:c.*12C>T | XP_006722065.1:n.*12C>T | |
| XM_006722004.2:c.754C>T | XP_006722067.1:p.Arg252Trp | |
| XM_006722005.2:c.754C>T | XP_006722068.1:p.Arg252Trp | |
| XM_011525092.1:c.754C>T | XP_011523394.1:p.Arg252Trp | |
| XM_011525093.1:c.754C>T | XP_011523395.1:p.Arg252Trp | |
| XM_011525094.1:c.754C>T | XP_011523396.1:p.Arg252Trp | |
| XR_934513.1:n.1320C>T | ||
| XR_934886.1:n.149+3878G>A | ||
| XM_006722001.4:c.1105C>T | XP_006722064.1:p.Arg369Trp | |
| XM_006722002.4:c.*12C>T | XP_006722065.1:n.*12C>T | |
| XM_006722004.3:c.754C>T | XP_006722067.1:p.Arg252Trp | |
| XM_006722005.3:c.754C>T | XP_006722068.1:p.Arg252Trp | |
| XM_011525092.2:c.754C>T | XP_011523394.1:p.Arg252Trp | |
| XM_011525093.2:c.754C>T | XP_011523395.1:p.Arg252Trp | |
| XM_011525094.2:c.754C>T | XP_011523396.1:p.Arg252Trp | |
| XM_017024914.1:c.751C>T | XP_016880403.1:p.Arg251Trp | |
| XM_017024915.1:c.751C>T | XP_016880404.1:p.Arg251Trp | |
| XM_017024916.1:c.751C>T | XP_016880405.1:p.Arg251Trp | |
| XM_017024917.1:c.751C>T | XP_016880406.1:p.Arg251Trp | |
| XM_017024918.2:c.751C>T | XP_016880407.1:p.Arg251Trp | |
| XM_017024919.1:c.*12C>T | XP_016880408.1:n.*12C>T | |
| XR_934513.3:n.1751C>T | ||
| XR_934886.2:n.149+3878G>A | ||
| NM_058216.3:c.1102C>T MANE Select | NP_478123.1:p.Arg368Trp | |
| NR_103872.2:n.977C>T |