Revel Score:
ENST00000519178
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001772 (EAS)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133012017C>T , CM000670.2:g.133012017C>T | GRCh38 |
| NC_000008.10:g.134024262C>T , CM000670.1:g.134024262C>T | GRCh37 |
| NC_000008.9:g.134093444C>T | NCBI36 |
| NG_015832.1:g.150058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.6379C>T MANE Select | ENSP00000220616.4:p.Arg2127Ter | |
| ENST00000220616.8:c.6379C>T | ENSP00000220616.4:p.Arg2127Ter | |
| ENST00000519178.5:c.1745C>T | ||
| ENST00000519543.5:c.778C>T | ENSP00000430430.1:p.Arg260Ter | |
| ENST00000522523.5:n.440C>T | ||
| ENST00000522797.1:c.379C>T | ||
| ENST00000523756.5:c.3034C>T | ||
| NM_003235.4:c.6379C>T | NP_003226.4:p.Arg2127Ter | |
| XM_005251038.3:c.6187C>T | XP_005251095.1:p.Arg2063Ter | |
| XM_006716622.2:c.6316C>T | XP_006716685.1:p.Arg2106Ter | |
| XM_005251038.4:c.6187C>T | XP_005251095.1:p.Arg2063Ter | |
| XM_006716622.3:c.6316C>T | XP_006716685.1:p.Arg2106Ter | |
| XM_017013793.1:c.6313C>T | XP_016869282.1:p.Arg2105Ter | |
| XM_017013794.1:c.6379C>T | XP_016869283.1:p.Arg2127Ter | |
| XM_017013795.1:c.6208C>T | XP_016869284.1:p.Arg2070Ter | |
| XM_017013796.1:c.6160C>T | XP_016869285.1:p.Arg2054Ter | |
| XM_017013797.1:c.6118C>T | XP_016869286.1:p.Arg2040Ter | |
| XM_017013798.1:c.6379C>T | XP_016869287.1:p.Arg2127Ter | |
| NM_003235.5:c.6379C>T MANE Select | NP_003226.4:p.Arg2127Ter |