Revel Score:
ENST00000276431 (MANE Select)
0.214
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23028507A>C , CM000670.2:g.23028507A>C | GRCh38 |
| NC_000008.10:g.22886020A>C , CM000670.1:g.22886020A>C | GRCh37 |
| NC_000008.9:g.22941965A>C | NCBI36 |
| NG_012145.1:g.45681T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276431.9:c.572T>G MANE Select | ENSP00000276431.4:p.Val191Gly | |
| ENST00000276431.8:c.572T>G | ENSP00000276431.4:p.Val191Gly | |
| ENST00000347739.3:c.550+22T>G | ENSP00000317859.3:n.550+22T>G | |
| ENST00000518531.5:n.322T>G | ||
| ENST00000523504.5:c.*171+22T>G | ENSP00000427999.1:n.*171+22T>G | |
| NM_003842.4:c.572T>G | NP_003833.4:p.Val191Gly | |
| NM_147187.2:c.550+22T>G | NP_671716.2:n.550+22T>G | |
| NR_027140.1:n.737+22T>G | ||
| XR_949500.1:n.865T>G | ||
| NM_003842.5:c.572T>G MANE Select | NP_003833.4:p.Val191Gly | |
| NM_147187.3:c.550+22T>G | NP_671716.2:n.550+22T>G | |
| NR_027140.2:n.581+22T>G |