Revel Score:
ENST00000392386 (MANE Select)
0.949
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18596711C>A , CM000681.2:g.18596711C>A | GRCh38 |
| NC_000019.9:g.18707521C>A , CM000681.1:g.18707521C>A | GRCh37 |
| NC_000019.8:g.18568521C>A | NCBI36 |
| NG_013370.1:g.15140G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.935G>T | ENSP00000506849.1:p.Arg312Leu | |
| ENST00000392386.8:c.935G>T MANE Select | ENSP00000376188.2:p.Arg312Leu | |
| ENST00000392386.7:c.935G>T | ENSP00000376188.2:p.Arg312Leu | |
| ENST00000597131.1:c.400G>T | ||
| NM_004750.4:c.935G>T | NP_004741.1:p.Arg312Leu | |
| XM_011528422.1:c.869G>T | XP_011526724.1:p.Arg290Leu | |
| XM_011528423.1:c.935G>T | XP_011526725.1:p.Arg312Leu | |
| XM_011528424.1:c.869G>T | XP_011526726.1:p.Arg290Leu | |
| XM_011528422.2:c.869G>T | XP_011526724.1:p.Arg290Leu | |
| XM_011528423.2:c.935G>T | XP_011526725.1:p.Arg312Leu | |
| XM_011528424.3:c.869G>T | XP_011526726.1:p.Arg290Leu | |
| NM_004750.5:c.935G>T MANE Select | NP_004741.1:p.Arg312Leu |