Revel Score:
ENST00000306077 (MANE Select)
0.033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141753C>G , CM000665.2:g.14141753C>G | GRCh38 |
| NC_000003.11:g.14183253C>G , CM000665.1:g.14183253C>G | GRCh37 |
| NC_000003.10:g.14158254C>G | NCBI36 |
| NG_008975.1:g.21814C>G , LRG_435:g.21814C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1191C>G | ENSP00000395617.1:n.*1191C>G | |
| ENST00000306077.5:c.1161C>G MANE Select | ENSP00000303992.5:p.Ile387Met | |
| ENST00000306077.4:c.1161C>G | ENSP00000303992.4:p.Ile387Met | |
| ENST00000601399.3:n.327+2456C>G | ||
| ENST00000608606.1:c.236+2456C>G | ||
| ENST00000626721.1:n.26C>G | ||
| NM_024334.2:c.1161C>G , LRG_435t1:c.1161C>G | NP_077310.1:p.Ile387Met | |
| XM_011534109.1:c.1056C>G | XP_011532411.1:p.Ile352Met | |
| XM_017007176.2:c.1056C>G | XP_016862665.1:p.Ile352Met | |
| NM_024334.3:c.1161C>G MANE Select | NP_077310.1:p.Ile387Met |