Revel Score:
ENST00000331830 (MANE Select)
0.271
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205058609G>C , CM000663.2:g.205058609G>C | GRCh38 |
| NC_000001.10:g.205027737G>C , CM000663.1:g.205027737G>C | GRCh37 |
| NC_000001.9:g.203294360G>C | NCBI36 |
| NG_033845.1:g.20398G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331830.7:c.433G>C MANE Select | ENSP00000330633.4:p.Ala145Pro | |
| ENST00000532366.2:c.*1020G>C | ENSP00000491665.1:n.*1020G>C | |
| ENST00000636809.2:n.932G>C | ||
| ENST00000638378.1:c.433G>C | ENSP00000492617.1:p.Ala145Pro | |
| ENST00000638928.1:n.179G>C | ||
| ENST00000639015.1:n.263G>C | ||
| ENST00000639023.1:n.124G>C | ||
| ENST00000639302.1:c.433G>C | ENSP00000491671.1:p.Ala145Pro | |
| ENST00000639971.1:c.433G>C | ENSP00000491959.1:p.Ala145Pro | |
| ENST00000640326.1:c.433G>C | ENSP00000492495.1:p.Ala145Pro | |
| ENST00000640352.1:c.*1231G>C | ENSP00000491080.1:n.*1231G>C | |
| ENST00000640428.1:c.433G>C | ENSP00000491474.1:p.Ala145Pro | |
| ENST00000331830.4:c.433G>C | ENSP00000330633.4:p.Ala145Pro | |
| ENST00000481872.6:n.5G>C | ||
| ENST00000530117.5:n.227G>C | ||
| NM_005076.3:c.433G>C | NP_005067.1:p.Ala145Pro | |
| XM_011509925.1:c.418G>C | XP_011508227.1:p.Ala140Pro | |
| NM_001346083.1:c.433G>C | NP_001333012.1:p.Ala145Pro | |
| NM_005076.4:c.433G>C | NP_005067.1:p.Ala145Pro | |
| NR_144350.1:n.790G>C | ||
| XM_017002198.1:c.433G>C | XP_016857687.1:p.Ala145Pro | |
| XM_017002199.2:c.418G>C | XP_016857688.1:p.Ala140Pro | |
| XM_024449386.1:c.472G>C | XP_024305154.1:p.Ala158Pro | |
| XM_024449387.1:c.106G>C | XP_024305155.1:p.Ala36Pro | |
| XM_024449388.1:c.106G>C | XP_024305156.1:p.Ala36Pro | |
| XM_024449389.1:c.472G>C | XP_024305157.1:p.Ala158Pro | |
| NM_005076.5:c.433G>C MANE Select | NP_005067.1:p.Ala145Pro | |
| NM_001346083.2:c.433G>C | NP_001333012.1:p.Ala145Pro | |
| NR_144350.2:n.702G>C |