Revel Score:
ENST00000405460 (MANE Select)
0.139
ENST00000296619
0.139
ENST00000399043
0.139
ENST00000504142
0.091
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00057977 (AMR)
Genomes Max Group AF
0.00028391 (SAS)
Exomes Max Group AF
0.00068176 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90643845C>T , CM000667.2:g.90643845C>T | GRCh38 |
| NC_000005.9:g.89939662C>T , CM000667.1:g.89939662C>T | GRCh37 |
| NC_000005.8:g.89975418C>T | NCBI36 |
| NG_007083.1:g.90046C>T | |
| NG_007083.2:g.119502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.2596C>T MANE Select | ENSP00000384582.2:p.Arg866Trp | |
| ENST00000504142.2:n.1362C>T | ||
| ENST00000639676.1:n.194C>T | ||
| ENST00000640403.1:c.-102C>T | ENSP00000492531.1:n.-102C>T | |
| ENST00000405460.6:c.2596C>T | ENSP00000384582.2:p.Arg866Trp | |
| ENST00000504142.1:c.1361C>T | ||
| ENST00000512205.1:n.506C>T | ||
| NM_032119.3:c.2596C>T | NP_115495.3:p.Arg866Trp | |
| NR_003149.1:n.2692C>T | ||
| XM_011543675.1:c.2596C>T | XP_011541977.1:p.Arg866Trp | |
| XM_011543676.1:c.2596C>T | XP_011541978.1:p.Arg866Trp | |
| XM_011543677.1:c.-102C>T | XP_011541979.1:n.-102C>T | |
| XM_011543678.1:c.2596C>T | XP_011541980.1:p.Arg866Trp | |
| XM_011543679.1:c.2596C>T | XP_011541981.1:p.Arg866Trp | |
| NM_032119.4:c.2596C>T MANE Select | NP_115495.3:p.Arg866Trp | |
| XM_017009963.2:c.2596C>T | XP_016865452.1:p.Arg866Trp | |
| XM_017009964.2:c.2596C>T | XP_016865453.1:p.Arg866Trp | |
| XM_017009965.1:c.2593C>T | XP_016865454.1:p.Arg865Trp | |
| XM_017009966.2:c.2596C>T | XP_016865455.1:p.Arg866Trp | |
| XM_017009967.1:c.2500C>T | XP_016865456.1:p.Arg834Trp | |
| XM_017009968.2:c.2596C>T | XP_016865457.1:p.Arg866Trp | |
| XM_017009969.2:c.2596C>T | XP_016865458.1:p.Arg866Trp | |
| XM_017009970.2:c.2596C>T | XP_016865459.1:p.Arg866Trp | |
| XM_017009971.2:c.2596C>T | XP_016865460.1:p.Arg866Trp | |
| XM_017009974.2:c.2596C>T | XP_016865463.1:p.Arg866Trp | |
| NR_003149.2:n.2695C>T |