Revel Score:
ENST00000247933
0.826
ENST00000453894
0.826
ENST00000514224 (MANE Select)
0.826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004305A>C , CM000666.2:g.1004305A>C | GRCh38 |
| NC_000004.11:g.998093A>C , CM000666.1:g.998093A>C | GRCh37 |
| NC_000004.10:g.988093A>C | NCBI36 |
| NG_008103.1:g.22309A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1874A>C | ENSP00000247933.4:p.Tyr625Ser | |
| ENST00000514224.2:c.1874A>C MANE Select | ENSP00000425081.2:p.Tyr625Ser | |
| ENST00000652070.1:n.1930A>C | ||
| ENST00000247933.8:c.1874A>C | ENSP00000247933.4:p.Tyr625Ser | |
| ENST00000514224.1:c.1478A>C | ENSP00000425081.1:p.Tyr493Ser | |
| ENST00000514698.5:n.1985A>C | ||
| NM_000203.4:c.1874A>C | NP_000194.2:p.Tyr625Ser | |
| NR_110313.1:n.1966A>C | ||
| XM_006713882.2:c.1478A>C | XP_006713945.1:p.Tyr493Ser | |
| XM_011513459.1:c.1940A>C | XP_011511761.1:p.Tyr647Ser | |
| XM_011513460.1:c.1733A>C | XP_011511762.1:p.Tyr578Ser | |
| XM_011513461.1:c.1667A>C | XP_011511763.1:p.Tyr556Ser | |
| XM_011513462.1:c.1586A>C | XP_011511764.1:p.Tyr529Ser | |
| XM_011513463.1:c.1586A>C | XP_011511765.1:p.Tyr529Ser | |
| XR_924947.1:n.2134A>C | ||
| NM_000203.5:c.1874A>C MANE Select | NP_000194.2:p.Tyr625Ser | |
| NM_001363576.1:c.1478A>C | NP_001350505.1:p.Tyr493Ser | |
| XM_011513461.2:c.1667A>C | XP_011511763.1:p.Tyr556Ser | |
| XM_017008163.1:c.914A>C | XP_016863652.1:p.Tyr305Ser |