Revel Score:
ENST00000397367
0.115
ENST00000397366
0.115
ENST00000513623
0.115
ENST00000514524
0.115
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35910427C>A , CM000667.2:g.35910427C>A | GRCh38 |
| NC_000005.9:g.35910529C>A , CM000667.1:g.35910529C>A | GRCh37 |
| NC_000005.8:g.35946286C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651391.1:c.254G>T MANE Select | ENSP00000498465.1:p.Arg85Leu | |
| ENST00000397366.5:c.254G>T | ENSP00000380523.1:p.Arg85Leu | |
| ENST00000397367.6:c.254G>T | ENSP00000380524.2:p.Arg85Leu | |
| ENST00000513623.5:c.254G>T | ENSP00000424806.1:p.Arg85Leu | |
| ENST00000514524.2:c.254G>T | ENSP00000421018.1:p.Arg85Leu | |
| NM_001042625.1:c.254G>T | NP_001036090.1:p.Arg85Leu | |
| NM_144647.3:c.254G>T | NP_653248.3:p.Arg85Leu | |
| XM_006714444.2:c.305G>T | XP_006714507.1:p.Arg102Leu | |
| XM_006714445.2:c.305G>T | XP_006714508.1:p.Arg102Leu | |
| XM_006714444.3:c.305G>T | XP_006714507.1:p.Arg102Leu | |
| XM_006714445.3:c.305G>T | XP_006714508.1:p.Arg102Leu | |
| NM_001042625.2:c.254G>T MANE Select | NP_001036090.1:p.Arg85Leu | |
| NM_144647.4:c.254G>T | NP_653248.3:p.Arg85Leu |