Revel Score:
ENST00000307792
0.300
ENST00000427262
0.300
ENST00000541514
0.300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367806G>C , CM000669.2:g.83367806G>C | GRCh38 |
| NC_000007.13:g.82997122G>C , CM000669.1:g.82997122G>C | GRCh37 |
| NC_000007.12:g.82835058G>C | NCBI36 |
| NG_021242.1:g.286358C>G | |
| NG_021242.2:g.286358C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1928C>G | ENSP00000405052.1:p.Ser643Trp | |
| ENST00000643230.2:c.2108C>G MANE Select | ENSP00000496491.1:p.Ser703Trp | |
| ENST00000643441.1:n.2093C>G | ||
| ENST00000307792.7:c.2108C>G | ENSP00000303212.3:p.Ser703Trp | |
| ENST00000427262.5:c.1928C>G | ENSP00000405052.1:p.Ser643Trp | |
| NM_001178129.1:c.1928C>G | NP_001171600.1:p.Ser643Trp | |
| NM_012431.2:c.2108C>G | NP_036563.1:p.Ser703Trp | |
| NM_012431.3:c.2108C>G MANE Select | NP_036563.1:p.Ser703Trp | |
| NM_001178129.2:c.1928C>G | NP_001171600.1:p.Ser643Trp |