Revel Score:
ENST00000450536 (MANE Select)
0.098
ENST00000367663
0.098
ENST00000529597
0.098
ENST00000409812
0.098
ENST00000258062
0.098
ENST00000415951
0.098
ENST00000367668
0.098
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019264 (NFE)
Genomes Max Group AF
0.00018199 (NFE)
Exomes Max Group AF
0.00018825 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138945637G>T , CM000668.2:g.138945637G>T | GRCh38 |
| NC_000006.11:g.139266774G>T , CM000668.1:g.139266774G>T | GRCh37 |
| NC_000006.10:g.139308467G>T | NCBI36 |
| NG_034016.1:g.47625C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450536.7:c.338C>A MANE Select | ENSP00000392065.2:p.Ala113Glu | |
| ENST00000258062.9:c.338C>A | ENSP00000258062.5:p.Ala113Glu | |
| ENST00000367663.8:c.338C>A | ENSP00000356635.4:p.Ala113Glu | |
| ENST00000409812.6:c.338C>A | ENSP00000386699.2:p.Ala113Glu | |
| ENST00000415951.6:c.338C>A | ENSP00000397941.2:p.Ala113Glu | |
| ENST00000445570.5:c.338C>A | ENSP00000401729.1:p.Ala113Glu | |
| ENST00000450536.6:c.338C>A | ENSP00000392065.2:p.Ala113Glu | |
| ENST00000483468.5:c.338C>A | ENSP00000435392.1:p.Ala113Glu | |
| ENST00000529597.5:c.296C>A | ENSP00000434251.1:p.Ala99Glu | |
| ENST00000626459.2:c.338C>A | ENSP00000487438.1:p.Ala113Glu | |
| NM_001128617.2:c.338C>A | NP_001122089.1:p.Ala113Glu | |
| NM_001286611.1:c.338C>A | NP_001273540.1:p.Ala113Glu | |
| NM_001286612.1:c.338C>A | NP_001273541.1:p.Ala113Glu | |
| NM_031922.4:c.338C>A | NP_114128.3:p.Ala113Glu | |
| XM_005267177.2:c.338C>A | XP_005267234.1:p.Ala113Glu | |
| XM_005267178.3:c.338C>A | XP_005267235.1:p.Ala113Glu | |
| XM_005267179.2:c.338C>A | XP_005267236.1:p.Ala113Glu | |
| XM_006715587.2:c.338C>A | XP_006715650.1:p.Ala113Glu | |
| XM_011536202.1:c.203C>A | XP_011534504.1:p.Ala68Glu | |
| XM_011536203.1:c.338C>A | XP_011534505.1:p.Ala113Glu | |
| XR_942610.1:n.938C>A | ||
| XM_005267177.4:c.338C>A | XP_005267234.1:p.Ala113Glu | |
| XM_005267178.5:c.338C>A | XP_005267235.1:p.Ala113Glu | |
| XM_005267179.4:c.338C>A | XP_005267236.1:p.Ala113Glu | |
| XM_011536202.2:c.203C>A | XP_011534504.1:p.Ala68Glu | |
| XM_017011387.2:c.338C>A | XP_016866876.1:p.Ala113Glu | |
| XM_017011388.2:c.203C>A | XP_016866877.1:p.Ala68Glu | |
| XM_017011389.1:c.203C>A | XP_016866878.1:p.Ala68Glu | |
| NM_001128617.3:c.338C>A | NP_001122089.1:p.Ala113Glu | |
| NM_001286611.2:c.338C>A MANE Select | NP_001273540.1:p.Ala113Glu | |
| NM_001286612.2:c.338C>A | NP_001273541.1:p.Ala113Glu | |
| NM_031922.5:c.338C>A | NP_114128.3:p.Ala113Glu |