Revel Score:
ENST00000519097
0.807
ENST00000380036 (MANE Select)
0.807
ENST00000406359
0.807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27212710A>C , CM000671.2:g.27212710A>C | GRCh38 |
| NC_000009.11:g.27212708A>C , CM000671.1:g.27212708A>C | GRCh37 |
| NC_000009.10:g.27202708A>C | NCBI36 |
| NG_011828.1:g.108562A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.2690A>C MANE Select | ENSP00000369375.4:p.Tyr897Ser | |
| ENST00000380036.8:c.2690A>C | ENSP00000369375.4:p.Tyr897Ser | |
| ENST00000406359.8:c.2561A>C | ENSP00000383977.4:p.Tyr854Ser | |
| ENST00000519097.5:c.2246A>C | ENSP00000430686.1:p.Tyr749Ser | |
| ENST00000615002.4:c.*1191A>C | ENSP00000480251.1:n.*1191A>C | |
| NM_000459.4:c.2690A>C | NP_000450.2:p.Tyr897Ser | |
| NM_001290077.1:c.2561A>C | NP_001277006.1:p.Tyr854Ser | |
| NM_001290078.1:c.2246A>C | NP_001277007.1:p.Tyr749Ser | |
| XM_005251561.1:c.2687A>C | XP_005251618.1:p.Tyr896Ser | |
| XM_005251563.1:c.2558A>C | XP_005251620.1:p.Tyr853Ser | |
| XM_005251561.2:c.2687A>C | XP_005251618.1:p.Tyr896Ser | |
| XM_005251563.2:c.2558A>C | XP_005251620.1:p.Tyr853Ser | |
| NM_000459.5:c.2690A>C MANE Select | NP_000450.3:p.Tyr897Ser | |
| NM_001375475.1:c.2687A>C | NP_001362404.1:p.Tyr896Ser | |
| NM_001375476.1:c.2558A>C | NP_001362405.1:p.Tyr853Ser |