Revel Score:
ENST00000347132 (MANE Select)
0.935
ENST00000509682
0.935
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819465G>C , CM000663.2:g.40819465G>C | GRCh38 |
| NC_000001.10:g.41285137G>C , CM000663.1:g.41285137G>C | GRCh37 |
| NC_000001.9:g.41057724G>C | NCBI36 |
| NG_008139.1:g.40454G>C | |
| NG_008139.2:g.40454G>C | |
| NG_008139.3:g.40679G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.827G>C MANE Select | ENSP00000262916.6:p.Trp276Ser | |
| ENST00000347132.9:c.827G>C | ENSP00000262916.6:p.Trp276Ser | |
| ENST00000443478.3:c.513G>C | ||
| ENST00000506017.1:n.146G>C | ||
| ENST00000509682.6:c.827G>C | ENSP00000423756.2:p.Trp276Ser | |
| NM_004700.3:c.827G>C | NP_004691.2:p.Trp276Ser | |
| NM_172163.2:c.827G>C | NP_751895.1:p.Trp276Ser | |
| XM_011542417.1:c.827G>C | XP_011540719.1:p.Trp276Ser | |
| XM_011542418.1:c.827G>C | XP_011540720.1:p.Trp276Ser | |
| XM_011542419.1:c.827G>C | XP_011540721.1:p.Trp276Ser | |
| XM_011542420.1:c.827G>C | XP_011540722.1:p.Trp276Ser | |
| XR_946798.1:n.833G>C | ||
| XR_946799.1:n.833G>C | ||
| XR_946800.1:n.833G>C | ||
| XM_017002792.1:c.-191G>C | XP_016858281.1:n.-191G>C | |
| NM_004700.4:c.827G>C MANE Select | NP_004691.2:p.Trp276Ser | |
| NM_172163.3:c.827G>C | NP_751895.1:p.Trp276Ser |