Revel Score:
ENST00000406775
0.618
ENST00000342771 (MANE Select)
0.618
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70768025T>C , CM000669.2:g.70768025T>C | GRCh38 |
| NC_000007.13:g.70233011T>C , CM000669.1:g.70233011T>C | GRCh37 |
| NC_000007.12:g.69870947T>C | NCBI36 |
| NG_034133.1:g.1174107T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.1691T>C MANE Select | ENSP00000344087.4:p.Phe564Ser | |
| ENST00000443672.2:c.26T>C | ENSP00000393548.2:p.Phe9Ser | |
| ENST00000483297.2:n.13T>C | ||
| ENST00000644359.1:c.315+1691T>C | ENSP00000494561.1:n.315+1691T>C | |
| ENST00000644506.1:c.317T>C | ENSP00000496672.1:p.Phe106Ser | |
| ENST00000644939.1:c.1688T>C | ENSP00000496726.1:p.Phe563Ser | |
| ENST00000644949.1:c.124T>C | ||
| ENST00000647140.1:c.556T>C | ||
| ENST00000656200.1:c.317T>C | ENSP00000499508.1:p.Phe106Ser | |
| ENST00000342771.8:c.1691T>C | ENSP00000344087.4:p.Phe564Ser | |
| ENST00000406775.6:c.1691T>C | ENSP00000385263.2:p.Phe564Ser | |
| ENST00000443672.1:c.314+1691T>C | ||
| ENST00000481994.1:n.296+1691T>C | ||
| ENST00000483297.1:n.2T>C | ||
| ENST00000611706.4:c.947T>C | ENSP00000478134.1:p.Phe316Ser | |
| ENST00000615871.4:c.947T>C | ENSP00000479325.1:p.Phe316Ser | |
| NM_001127231.2:c.1691T>C | NP_001120703.1:p.Phe564Ser | |
| NM_015570.3:c.1691T>C | NP_056385.1:p.Phe564Ser | |
| XM_005250257.1:c.338T>C | XP_005250314.1:p.Phe113Ser | |
| XM_011516010.1:c.1712T>C | XP_011514312.1:p.Phe571Ser | |
| XM_011516011.1:c.1709T>C | XP_011514313.1:p.Phe570Ser | |
| XM_011516012.1:c.1689+1691T>C | XP_011514314.1:n.1689+1691T>C | |
| XM_011516013.1:c.1712T>C | XP_011514315.1:p.Phe571Ser | |
| XM_011516014.1:c.1712T>C | XP_011514316.1:p.Phe571Ser | |
| XM_011516015.1:c.1689+1691T>C | XP_011514317.1:n.1689+1691T>C | |
| XM_011516016.1:c.1421T>C | XP_011514318.1:p.Phe474Ser | |
| XM_011516017.1:c.1238T>C | XP_011514319.1:p.Phe413Ser | |
| XM_011516018.1:c.1211T>C | XP_011514320.1:p.Phe404Ser | |
| XM_005250257.2:c.338T>C | XP_005250314.1:p.Phe113Ser | |
| XM_011516010.2:c.1712T>C | XP_011514312.1:p.Phe571Ser | |
| XM_011516011.2:c.1709T>C | XP_011514313.1:p.Phe570Ser | |
| XM_011516012.2:c.1689+1691T>C | XP_011514314.1:n.1689+1691T>C | |
| XM_011516013.2:c.1712T>C | XP_011514315.1:p.Phe571Ser | |
| XM_011516014.2:c.1712T>C | XP_011514316.1:p.Phe571Ser | |
| XM_011516017.2:c.1238T>C | XP_011514319.1:p.Phe413Ser | |
| XM_011516018.2:c.1211T>C | XP_011514320.1:p.Phe404Ser | |
| XM_017011951.2:c.1712T>C | XP_016867440.1:p.Phe571Ser | |
| NM_001127231.3:c.1691T>C | NP_001120703.1:p.Phe564Ser | |
| NM_015570.4:c.1691T>C MANE Select | NP_056385.1:p.Phe564Ser |