Revel Score:
ENST00000282020 (MANE Select)
0.263
ENST00000510992
0.263
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000298 (EAS)
Exomes Max Group AF
0.00002006 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.93515346C>T , CM000666.2:g.93515346C>T | GRCh38 |
| NC_000004.11:g.94436497C>T , CM000666.1:g.94436497C>T | GRCh37 |
| NC_000004.10:g.94655520C>T | NCBI36 |
| NG_034113.1:g.1215948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282020.9:c.2128C>T MANE Select | ENSP00000282020.4:p.Arg710Trp | |
| ENST00000282020.8:c.2128C>T | ENSP00000282020.4:p.Arg710Trp | |
| ENST00000510992.5:c.1843C>T | ENSP00000421257.1:p.Arg615Trp | |
| ENST00000611049.4:c.1885C>T | ENSP00000483084.1:p.Arg629Trp | |
| NM_001286838.1:c.1843C>T | NP_001273767.1:p.Arg615Trp | |
| NM_001510.3:c.2128C>T | NP_001501.2:p.Arg710Trp | |
| XM_011531893.1:c.1999C>T | XP_011530195.1:p.Arg667Trp | |
| XM_011531894.1:c.1444C>T | XP_011530196.1:p.Arg482Trp | |
| XM_011531895.1:c.1219C>T | XP_011530197.1:p.Arg407Trp | |
| XM_011531893.2:c.2212C>T | XP_011530195.2:p.Arg738Trp | |
| XM_011531894.2:c.1444C>T | XP_011530196.1:p.Arg482Trp | |
| XM_011531895.2:c.1219C>T | XP_011530197.1:p.Arg407Trp | |
| XM_017008118.1:c.2164C>T | XP_016863607.1:p.Arg722Trp | |
| XM_017008119.1:c.1996C>T | XP_016863608.1:p.Arg666Trp | |
| XM_017008120.2:c.2212C>T | XP_016863609.1:p.Arg738Trp | |
| XM_017008121.1:c.2212C>T | XP_016863610.1:p.Arg738Trp | |
| XM_017008122.2:c.2128C>T | XP_016863611.1:p.Arg710Trp | |
| XM_017008123.1:c.1171C>T | XP_016863612.1:p.Arg391Trp | |
| XM_017008124.1:c.1171C>T | XP_016863613.1:p.Arg391Trp | |
| XM_017008125.1:c.1171C>T | XP_016863614.1:p.Arg391Trp | |
| XM_024454024.1:c.2176C>T | XP_024309792.1:p.Arg726Trp | |
| XM_024454025.1:c.1171C>T | XP_024309793.1:p.Arg391Trp | |
| XM_024454026.1:c.1129C>T | XP_024309794.1:p.Arg377Trp | |
| NM_001510.4:c.2128C>T MANE Select | NP_001501.2:p.Arg710Trp |