Revel Score:
ENST00000360256 (MANE Select)
0.788
ENST00000423959
0.788
ENST00000453950
0.788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997002A>C , CM000685.2:g.154997002A>C | GRCh38 |
| NC_000023.10:g.154225277A>C , CM000685.1:g.154225277A>C | GRCh37 |
| NC_000023.9:g.153878471A>C | NCBI36 |
| NG_011403.1:g.30722T>G | |
| NG_011403.2:g.30722T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.359T>G MANE Select | ENSP00000353393.4:p.Val120Gly | |
| ENST00000647125.1:c.*145T>G | ENSP00000496062.1:n.*145T>G | |
| ENST00000360256.8:c.359T>G | ENSP00000353393.4:p.Val120Gly | |
| ENST00000423959.5:c.254T>G | ENSP00000409446.1:p.Val85Gly | |
| ENST00000453950.1:c.341T>G | ENSP00000389153.1:p.Val114Gly | |
| NM_000132.3:c.359T>G | NP_000123.1:p.Val120Gly | |
| XM_011531126.1:c.254T>G | XP_011529428.1:p.Val85Gly | |
| NM_000132.4:c.359T>G MANE Select | NP_000123.1:p.Val120Gly |