Revel Score:
ENST00000324868 (MANE Select)
0.365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32747333G>C , CM000674.2:g.32747333G>C | GRCh38 |
| NC_000012.11:g.32900267G>C , CM000674.1:g.32900267G>C | GRCh37 |
| NC_000012.10:g.32791534G>C | NCBI36 |
| NG_012219.1:g.73131G>C | |
| NG_028122.1:g.13621C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.1305C>G MANE Select | ENSP00000320658.8:p.Ser435Arg | |
| ENST00000324868.12:c.1305C>G | ENSP00000320658.8:p.Ser435Arg | |
| ENST00000548490.1:c.1192C>G | ENSP00000447710.1:n.1192C>G | |
| ENST00000551673.5:n.202C>G | ||
| NM_001040436.2:c.1305C>G | NP_001035526.1:p.Ser435Arg | |
| XR_242891.3:n.1392C>G | ||
| XR_242892.3:n.1392C>G | ||
| XR_429036.1:n.1392C>G | ||
| XR_931296.1:n.1392C>G | ||
| XR_931297.1:n.1392C>G | ||
| XR_931298.1:n.1392C>G | ||
| XR_931299.1:n.1392C>G | ||
| XR_001748730.2:n.1889C>G | ||
| XR_002957331.1:n.1889C>G | ||
| XR_242892.5:n.1889C>G | ||
| XR_931296.3:n.1889C>G | ||
| NM_001040436.3:c.1305C>G MANE Select | NP_001035526.1:p.Ser435Arg |