Revel Score:
ENST00000442544 (MANE Select)
0.153
ENST00000304775
0.153
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52752339C>T , CM000680.2:g.52752339C>T | GRCh38 |
| NC_000018.9:g.50278709C>T , CM000680.1:g.50278709C>T | GRCh37 |
| NC_000018.8:g.48532707C>T | NCBI36 |
| NG_013341.1:g.417168C>T | |
| NG_013341.2:g.417168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.377C>T MANE Select | ENSP00000389140.2:p.Ser126Leu | |
| ENST00000304775.12:c.178C>T | ||
| ENST00000412726.5:c.308C>T | ENSP00000397322.2:p.Ser103Leu | |
| ENST00000442544.6:c.377C>T | ENSP00000389140.2:p.Ser126Leu | |
| ENST00000578080.1:c.280C>T | ||
| ENST00000579349.1:c.174C>T | ||
| ENST00000579666.1:n.166C>T | ||
| ENST00000580024.1:n.181C>T | ||
| ENST00000581559.1:c.173C>T | ENSP00000463463.1:p.Ser58Leu | |
| ENST00000582595.1:n.110C>T | ||
| ENST00000582875.1:c.179C>T | ENSP00000463131.1:p.Ser60Leu | |
| NM_005215.3:c.377C>T | NP_005206.2:p.Ser126Leu | |
| XM_011525843.1:c.377C>T | XP_011524145.1:p.Ser126Leu | |
| XM_011525845.1:c.377C>T | XP_011524147.1:p.Ser126Leu | |
| XM_011525846.1:c.377C>T | XP_011524148.1:p.Ser126Leu | |
| XM_017025568.1:c.377C>T | XP_016881057.1:p.Ser126Leu | |
| XM_017025569.1:c.377C>T | XP_016881058.1:p.Ser126Leu | |
| NM_005215.4:c.377C>T MANE Select | NP_005206.2:p.Ser126Leu |