Revel Score:
ENST00000299314 (MANE Select)
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753399A>G , CM000674.2:g.101753399A>G | GRCh38 |
| NC_000012.11:g.102147177A>G , CM000674.1:g.102147177A>G | GRCh37 |
| NC_000012.10:g.100671308A>G | NCBI36 |
| NG_021243.1:g.82469T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3575T>C MANE Select | ENSP00000299314.7:p.Phe1192Ser | |
| ENST00000299314.11:c.3575T>C | ENSP00000299314.7:p.Phe1192Ser | |
| ENST00000549738.5:c.473T>C | ENSP00000450161.1:n.473T>C | |
| NM_024312.4:c.3575T>C | NP_077288.2:p.Phe1192Ser | |
| XM_011538731.1:c.3494T>C | XP_011537033.1:p.Phe1165Ser | |
| XM_011538731.2:c.3494T>C | XP_011537033.1:p.Phe1165Ser | |
| XM_017019961.1:c.3359T>C | XP_016875450.1:p.Phe1120Ser | |
| XM_017019962.2:c.2348T>C | XP_016875451.1:p.Phe783Ser | |
| NM_024312.5:c.3575T>C MANE Select | NP_077288.2:p.Phe1192Ser |