Revel Score:
ENST00000324868 (MANE Select)
0.671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32755721A>G , CM000674.2:g.32755721A>G | GRCh38 |
| NC_000012.11:g.32908655A>G , CM000674.1:g.32908655A>G | GRCh37 |
| NC_000012.10:g.32799922A>G | NCBI36 |
| NG_028122.1:g.5233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.154T>C MANE Select | ENSP00000320658.8:p.Phe52Leu | |
| ENST00000324868.12:c.154T>C | ENSP00000320658.8:p.Phe52Leu | |
| ENST00000548490.1:c.76T>C | ENSP00000447710.1:p.Phe26Leu | |
| NM_001040436.2:c.154T>C | NP_001035526.1:p.Phe52Leu | |
| XR_242891.3:n.241T>C | ||
| XR_242892.3:n.241T>C | ||
| XR_429036.1:n.241T>C | ||
| XR_931296.1:n.241T>C | ||
| XR_931297.1:n.241T>C | ||
| XR_931298.1:n.241T>C | ||
| XR_931299.1:n.241T>C | ||
| XR_001748730.2:n.738T>C | ||
| XR_002957331.1:n.738T>C | ||
| XR_242892.5:n.738T>C | ||
| XR_931296.3:n.738T>C | ||
| NM_001040436.3:c.154T>C MANE Select | NP_001035526.1:p.Phe52Leu |