Revel Score:
ENST00000368314 (MANE Select)
0.233
ENST00000356799
0.233
ENST00000309649
0.233
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.127287653C>A , CM000668.2:g.127287653C>A | GRCh38 |
| NC_000006.11:g.127608798C>A , CM000668.1:g.127608798C>A | GRCh37 |
| NC_000006.10:g.127650491C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368314.6:c.1040C>A MANE Select | ENSP00000357297.1:p.Ser347Tyr | |
| ENST00000309649.7:c.1037C>A | ENSP00000309365.3:p.Ser346Tyr | |
| ENST00000356799.6:c.*1045C>A | ENSP00000349253.3:n.*1045C>A | |
| ENST00000368314.5:c.1040C>A | ENSP00000357297.1:p.Ser347Tyr | |
| ENST00000608991.5:c.1037C>A | ENSP00000477168.1:p.Ser346Tyr | |
| ENST00000610153.1:c.1040C>A | ENSP00000476814.1:p.Ser347Tyr | |
| ENST00000616343.4:c.1040C>A | ENSP00000479890.1:p.Ser347Tyr | |
| NM_001242844.1:c.1037C>A | NP_001229773.1:p.Ser346Tyr | |
| NM_001242845.1:c.1037C>A | NP_001229774.1:p.Ser346Tyr | |
| NM_001242846.1:c.1037C>A | NP_001229775.1:p.Ser346Tyr | |
| NM_001242847.1:c.1037C>A | NP_001229776.1:p.Ser346Tyr | |
| NM_001242848.1:c.1037C>A | NP_001229777.1:p.Ser346Tyr | |
| NM_001242849.1:c.1040C>A | NP_001229778.1:p.Ser347Tyr | |
| NM_001242850.1:c.1040C>A | NP_001229779.1:p.Ser347Tyr | |
| NM_001242851.1:c.1040C>A | NP_001229780.1:p.Ser347Tyr | |
| NM_001242852.1:c.1037C>A | NP_001229781.1:p.Ser346Tyr | |
| NM_030963.3:c.1037C>A | NP_112225.2:p.Ser346Tyr | |
| XM_006715571.2:c.1037C>A | XP_006715634.1:p.Ser346Tyr | |
| XM_011536161.1:c.1037C>A | XP_011534463.1:p.Ser346Tyr | |
| XM_011536162.1:c.1037C>A | XP_011534464.1:p.Ser346Tyr | |
| XM_011536163.1:c.1037C>A | XP_011534465.1:p.Ser346Tyr | |
| XM_011536164.1:c.1037C>A | XP_011534466.1:p.Ser346Tyr | |
| XM_006715571.4:c.1037C>A | XP_006715634.1:p.Ser346Tyr | |
| XM_011536161.3:c.1037C>A | XP_011534463.1:p.Ser346Tyr | |
| XM_011536162.3:c.1037C>A | XP_011534464.1:p.Ser346Tyr | |
| XM_011536163.3:c.1037C>A | XP_011534465.1:p.Ser346Tyr | |
| XM_011536164.3:c.1037C>A | XP_011534466.1:p.Ser346Tyr | |
| XM_017011336.2:c.1040C>A | XP_016866825.1:p.Ser347Tyr | |
| XM_017011338.2:c.1037C>A | XP_016866827.1:p.Ser346Tyr | |
| XM_017011339.2:c.1037C>A | XP_016866828.1:p.Ser346Tyr | |
| XM_017011340.2:c.1037C>A | XP_016866829.1:p.Ser346Tyr | |
| XM_017011341.2:c.1037C>A | XP_016866830.1:p.Ser346Tyr | |
| XM_017011342.2:c.1037C>A | XP_016866831.1:p.Ser346Tyr | |
| XM_017011343.2:c.1037C>A | XP_016866832.1:p.Ser346Tyr | |
| XM_024446563.1:c.1037C>A | XP_024302331.1:p.Ser346Tyr | |
| XM_024446564.1:c.1037C>A | XP_024302332.1:p.Ser346Tyr | |
| NM_001242844.2:c.1037C>A | NP_001229773.1:p.Ser346Tyr | |
| NM_001242845.2:c.1037C>A | NP_001229774.1:p.Ser346Tyr | |
| NM_001242846.2:c.1037C>A | NP_001229775.1:p.Ser346Tyr | |
| NM_001242847.2:c.1037C>A | NP_001229776.1:p.Ser346Tyr | |
| NM_001242848.2:c.1037C>A | NP_001229777.1:p.Ser346Tyr | |
| NM_001242849.2:c.1040C>A | NP_001229778.1:p.Ser347Tyr | |
| NM_001242850.2:c.1040C>A MANE Select | NP_001229779.1:p.Ser347Tyr | |
| NM_001242852.2:c.1037C>A | NP_001229781.1:p.Ser346Tyr | |
| NM_030963.4:c.1037C>A | NP_112225.2:p.Ser346Tyr |