Revel Score:
ENST00000542334
0.804
ENST00000268057 (MANE Select)
0.804
ENST00000539603
0.804
ENST00000395205
0.804
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72735167C>G , CM000677.2:g.72735167C>G | GRCh38 |
| NC_000015.9:g.73027508C>G , CM000677.1:g.73027508C>G | GRCh37 |
| NC_000015.8:g.70814561C>G | NCBI36 |
| NG_009416.2:g.53983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.1091C>G MANE Select | ENSP00000268057.4:p.Ala364Gly | |
| ENST00000268057.8:c.1091C>G | ENSP00000268057.4:p.Ala364Gly | |
| ENST00000395205.6:c.575C>G | ENSP00000378631.3:p.Ala192Gly | |
| ENST00000562084.5:c.*1170C>G | ENSP00000454718.1:n.*1170C>G | |
| ENST00000562219.1:n.526C>G | ||
| ENST00000566197.1:c.136C>G | ||
| ENST00000566400.5:c.*981C>G | ENSP00000456759.1:n.*981C>G | |
| ENST00000567279.5:c.*945C>G | ENSP00000456664.1:n.*945C>G | |
| ENST00000569151.1:n.225C>G | ||
| NM_001252678.1:c.575C>G | NP_001239607.1:p.Ala192Gly | |
| NM_033028.4:c.1091C>G | NP_149017.2:p.Ala364Gly | |
| NR_045565.1:n.1198C>G | ||
| NR_045566.1:n.1453C>G | ||
| XM_006720625.2:c.1022C>G | XP_006720688.1:p.Ala341Gly | |
| XM_011521848.1:c.575C>G | XP_011520150.1:p.Ala192Gly | |
| XM_011521849.1:c.575C>G | XP_011520151.1:p.Ala192Gly | |
| XM_011521850.1:c.575C>G | XP_011520152.1:p.Ala192Gly | |
| XM_011521851.1:c.359C>G | XP_011520153.1:p.Ala120Gly | |
| NM_001320665.1:c.1022C>G | NP_001307594.1:p.Ala341Gly | |
| XM_017022450.1:c.1046C>G | XP_016877939.1:p.Ala349Gly | |
| XM_017022452.1:c.575C>G | XP_016877941.1:p.Ala192Gly | |
| XM_017022453.1:c.575C>G | XP_016877942.1:p.Ala192Gly | |
| XM_017022454.1:c.575C>G | XP_016877943.1:p.Ala192Gly | |
| NM_033028.5:c.1091C>G MANE Select | NP_149017.2:p.Ala364Gly | |
| NM_001252678.2:c.575C>G | NP_001239607.1:p.Ala192Gly | |
| NM_001320665.2:c.1022C>G | NP_001307594.1:p.Ala341Gly | |
| NR_045565.2:n.1170C>G | ||
| NR_045566.2:n.1425C>G |