Revel Score:
ENST00000553106 (MANE Select)
0.818
ENST00000307000
0.818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846914T>G , CM000674.2:g.102846914T>G | GRCh38 |
| NC_000012.11:g.103240692T>G , CM000674.1:g.103240692T>G | GRCh37 |
| NC_000012.10:g.101764822T>G | NCBI36 |
| NG_008690.1:g.75689A>C | |
| NG_008690.2:g.116497A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.950A>C MANE Select | ENSP00000448059.1:p.Tyr317Ser | |
| ENST00000307000.7:c.935A>C | ENSP00000303500.2:p.Tyr312Ser | |
| ENST00000549247.6:n.709A>C | ||
| ENST00000551114.2:n.612A>C | ||
| ENST00000553106.5:c.950A>C | ENSP00000448059.1:p.Tyr317Ser | |
| ENST00000635477.1:c.74-2483A>C | ||
| ENST00000635528.1:n.465A>C | ||
| NM_000277.1:c.950A>C | NP_000268.1:p.Tyr317Ser | |
| XM_011538422.1:c.913-2483A>C | XP_011536724.1:n.913-2483A>C | |
| NM_000277.2:c.950A>C | NP_000268.1:p.Tyr317Ser | |
| NM_001354304.1:c.950A>C | NP_001341233.1:p.Tyr317Ser | |
| NM_000277.3:c.950A>C MANE Select | NP_000268.1:p.Tyr317Ser | |
| NM_001354304.2:c.950A>C | NP_001341233.1:p.Tyr317Ser |