Revel Score:
ENST00000263791 (MANE Select)
0.157
ENST00000382727
0.157
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00016269 (SAS)
Exomes Max Group AF
0.00017248 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39988037C>G , CM000677.2:g.39988037C>G | GRCh38 |
| NC_000015.9:g.40280238C>G , CM000677.1:g.40280238C>G | GRCh37 |
| NC_000015.8:g.38067530C>G | NCBI36 |
| NG_034053.1:g.58914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.2458C>G MANE Select | ENSP00000263791.5:p.Arg820Gly | |
| ENST00000263791.9:c.2458C>G | ENSP00000263791.5:p.Arg820Gly | |
| ENST00000560855.5:c.1790C>G | ||
| NM_001013703.3:c.2458C>G | NP_001013725.2:p.Arg820Gly | |
| XM_005254392.1:c.2458C>G | XP_005254449.1:p.Arg820Gly | |
| XM_011521599.1:c.2458C>G | XP_011519901.1:p.Arg820Gly | |
| XM_011521600.1:c.2458C>G | XP_011519902.1:p.Arg820Gly | |
| XM_005254392.3:c.2458C>G | XP_005254449.1:p.Arg820Gly | |
| XM_011521599.2:c.2458C>G | XP_011519901.1:p.Arg820Gly | |
| XM_011521600.3:c.2458C>G | XP_011519902.1:p.Arg820Gly | |
| XM_017022219.2:c.2458C>G | XP_016877708.1:p.Arg820Gly | |
| NM_001013703.4:c.2458C>G MANE Select | NP_001013725.2:p.Arg820Gly |