Revel Score:
ENST00000392882 (MANE Select)
0.733
ENST00000358655
0.733
ENST00000355338
0.733
ENST00000344102
0.733
ENST00000557135
0.733
ENST00000556645
0.733
ENST00000553395
0.733
ENST00000556504
0.733
ENST00000557722
0.733
ENST00000557297
0.733
ENST00000556435
0.733
ENST00000556338
0.733
ENST00000556698
0.733
ENST00000553524
0.733
ENST00000555410
0.733
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100360579G>A , CM000676.2:g.100360579G>A | GRCh38 |
| NC_000014.8:g.100826916G>A , CM000676.1:g.100826916G>A | GRCh37 |
| NC_000014.7:g.99896669G>A | NCBI36 |
| NG_029914.1:g.20765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392882.7:c.397C>T MANE Select | ENSP00000376620.2:p.Arg133Cys | |
| ENST00000344102.9:c.274C>T | ENSP00000339485.5:p.Arg92Cys | |
| ENST00000355338.6:c.397C>T | ENSP00000347495.2:p.Arg133Cys | |
| ENST00000358655.8:c.274C>T | ENSP00000351481.4:p.Arg92Cys | |
| ENST00000392882.6:c.397C>T | ENSP00000376620.2:p.Arg133Cys | |
| ENST00000553395.5:c.274C>T | ENSP00000451490.1:p.Arg92Cys | |
| ENST00000553524.5:c.397C>T | ENSP00000451349.1:p.Arg133Cys | |
| ENST00000553808.5:n.661C>T | ||
| ENST00000554084.5:n.300C>T | ||
| ENST00000554331.5:n.541C>T | ||
| ENST00000555063.5:n.382C>T | ||
| ENST00000555410.5:c.499C>T | ENSP00000450934.1:p.Arg167Cys | |
| ENST00000556338.5:c.274C>T | ENSP00000451544.1:p.Arg92Cys | |
| ENST00000556435.5:c.274C>T | ENSP00000452519.1:p.Arg92Cys | |
| ENST00000556504.5:c.274C>T | ENSP00000451251.1:p.Arg92Cys | |
| ENST00000556579.5:n.510C>T | ||
| ENST00000556645.5:c.274C>T | ENSP00000451887.1:p.Arg92Cys | |
| ENST00000556698.5:c.397C>T | ENSP00000450427.1:p.Arg133Cys | |
| ENST00000557135.5:c.397C>T | ENSP00000451460.1:p.Arg133Cys | |
| ENST00000557239.5:n.435+1129C>T | ||
| ENST00000557297.5:c.274C>T | ENSP00000451599.1:p.Arg92Cys | |
| ENST00000557722.5:c.397C>T | ENSP00000450500.1:p.Arg133Cys | |
| NM_004184.3:c.397C>T | NP_004175.2:p.Arg133Cys | |
| NM_173701.1:c.397C>T | NP_776049.1:p.Arg133Cys | |
| NM_213645.1:c.274C>T | NP_998810.1:p.Arg92Cys | |
| NM_213646.1:c.274C>T | NP_998811.1:p.Arg92Cys | |
| XM_005268044.2:c.397C>T | XP_005268101.1:p.Arg133Cys | |
| XM_006720249.2:c.397C>T | XP_006720312.1:p.Arg133Cys | |
| XM_011537133.1:c.397C>T | XP_011535435.1:p.Arg133Cys | |
| XM_011537134.1:c.397C>T | XP_011535436.1:p.Arg133Cys | |
| XM_011537135.1:c.397C>T | XP_011535437.1:p.Arg133Cys | |
| XM_011537136.1:c.274C>T | XP_011535438.1:p.Arg92Cys | |
| XM_011537137.1:c.274C>T | XP_011535439.1:p.Arg92Cys | |
| XM_005268044.4:c.397C>T | XP_005268101.1:p.Arg133Cys | |
| XM_006720249.3:c.397C>T | XP_006720312.1:p.Arg133Cys | |
| XM_011537133.2:c.397C>T | XP_011535435.1:p.Arg133Cys | |
| XM_011537136.3:c.274C>T | XP_011535438.1:p.Arg92Cys | |
| XM_017021627.2:c.397C>T | XP_016877116.1:p.Arg133Cys | |
| XM_017021629.1:c.397C>T | XP_016877118.1:p.Arg133Cys | |
| XM_024449706.1:c.397C>T | XP_024305474.1:p.Arg133Cys | |
| XM_024449707.1:c.397C>T | XP_024305475.1:p.Arg133Cys | |
| XM_024449708.1:c.274C>T | XP_024305476.1:p.Arg92Cys | |
| NM_004184.4:c.397C>T MANE Select | NP_004175.2:p.Arg133Cys | |
| NM_173701.2:c.397C>T | NP_776049.1:p.Arg133Cys | |
| NM_213645.2:c.274C>T | NP_998810.1:p.Arg92Cys | |
| NM_213646.2:c.274C>T | NP_998811.1:p.Arg92Cys |