Revel Score:
ENST00000374695 (MANE Select)
0.045
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21880742T>G , CM000663.2:g.21880742T>G | GRCh38 |
| NC_000001.10:g.22207235T>G , CM000663.1:g.22207235T>G | GRCh37 |
| NC_000001.9:g.22079822T>G | NCBI36 |
| NG_016740.1:g.61516A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.1912A>C MANE Select | ENSP00000363827.3:p.Met638Leu | |
| ENST00000374695.7:c.1912A>C | ENSP00000363827.3:p.Met638Leu | |
| NM_001291860.1:c.1915A>C | NP_001278789.1:p.Met639Leu | |
| NM_005529.6:c.1912A>C | NP_005520.4:p.Met638Leu | |
| XM_006710594.2:c.1963A>C | XP_006710657.1:p.Met655Leu | |
| XM_006710595.2:c.1915A>C | XP_006710658.1:p.Met639Leu | |
| XM_006710596.2:c.1966A>C | XP_006710659.1:p.Met656Leu | |
| XM_006710597.2:c.1912A>C | XP_006710660.1:p.Met638Leu | |
| XM_011541317.1:c.1966A>C | XP_011539619.1:p.Met656Leu | |
| XM_011541318.1:c.1966A>C | XP_011539620.1:p.Met656Leu | |
| XM_011541319.1:c.1966A>C | XP_011539621.1:p.Met656Leu | |
| XM_011541320.1:c.1966A>C | XP_011539622.1:p.Met656Leu | |
| XM_011541321.1:c.1966A>C | XP_011539623.1:p.Met656Leu | |
| XM_011541322.1:c.1966A>C | XP_011539624.1:p.Met656Leu | |
| XM_011541318.2:c.1966A>C | XP_011539620.1:p.Met656Leu | |
| XM_017001120.1:c.2107A>C | XP_016856609.1:p.Met703Leu | |
| XM_017001121.1:c.2056A>C | XP_016856610.1:p.Met686Leu | |
| XM_017001122.1:c.2053A>C | XP_016856611.1:p.Met685Leu | |
| NM_005529.7:c.1912A>C MANE Select | NP_005520.4:p.Met638Leu | |
| NM_001291860.2:c.1915A>C | NP_001278789.1:p.Met639Leu |