Revel Score:
ENST00000262418 (MANE Select)
0.941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44257768A>C , CM000679.2:g.44257768A>C | GRCh38 |
| NC_000017.10:g.42335136A>C , CM000679.1:g.42335136A>C | GRCh37 |
| NC_000017.9:g.39690662A>C | NCBI36 |
| NG_007498.1:g.15367T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1322T>G MANE Select | ENSP00000262418.6:p.Leu441Arg | |
| ENST00000262418.10:c.1322T>G | ENSP00000262418.6:p.Leu441Arg | |
| ENST00000399246.3:c.777+1494T>G | ENSP00000382190.3:n.777+1494T>G | |
| ENST00000497360.5:n.1461T>G | ||
| NM_000342.3:c.1322T>G | NP_000333.1:p.Leu441Arg | |
| XM_005257593.3:c.1127T>G | XP_005257650.1:p.Leu376Arg | |
| XM_011525129.1:c.1322T>G | XP_011523431.1:p.Leu441Arg | |
| XM_011525130.1:c.1322T>G | XP_011523432.1:p.Leu441Arg | |
| XM_011525131.1:c.1322T>G | XP_011523433.1:p.Leu441Arg | |
| XM_005257593.5:c.1127T>G | XP_005257650.1:p.Leu376Arg | |
| XM_011525129.2:c.1322T>G | XP_011523431.1:p.Leu441Arg | |
| NM_000342.4:c.1322T>G MANE Select | NP_000333.1:p.Leu441Arg |