Revel Score:
ENST00000442544 (MANE Select)
0.158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52340856C>G , CM000680.2:g.52340856C>G | GRCh38 |
| NC_000018.9:g.49867226C>G , CM000680.1:g.49867226C>G | GRCh37 |
| NC_000018.8:g.48121224C>G | NCBI36 |
| NG_013341.1:g.5685C>G | |
| NG_013341.2:g.5685C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.69C>G MANE Select | ENSP00000389140.2:p.Phe23Leu | |
| ENST00000442544.6:c.69C>G | ENSP00000389140.2:p.Phe23Leu | |
| NM_005215.3:c.69C>G | NP_005206.2:p.Phe23Leu | |
| XM_011525843.1:c.69C>G | XP_011524145.1:p.Phe23Leu | |
| XM_011525845.1:c.69C>G | XP_011524147.1:p.Phe23Leu | |
| XM_011525846.1:c.69C>G | XP_011524148.1:p.Phe23Leu | |
| XM_017025568.1:c.69C>G | XP_016881057.1:p.Phe23Leu | |
| XM_017025569.1:c.69C>G | XP_016881058.1:p.Phe23Leu | |
| NM_005215.4:c.69C>G MANE Select | NP_005206.2:p.Phe23Leu |