Revel Score:
ENST00000374877
0.100
ENST00000397545 (MANE Select)
0.100
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00608877 (AFR)
Genomes Max Group AF
0.00606154 (AFR)
Exomes Max Group AF
0.00569116 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80081722A>G , CM000679.2:g.80081722A>G | GRCh38 |
| NC_000017.10:g.78055521A>G , CM000679.1:g.78055521A>G | GRCh37 |
| NC_000017.9:g.75670116A>G | NCBI36 |
| NG_029761.1:g.50091A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.1739A>G MANE Select | ENSP00000380679.4:p.Gln580Arg | |
| ENST00000374877.7:c.1739A>G | ENSP00000364011.3:p.Gln580Arg | |
| ENST00000397545.8:c.1739A>G | ENSP00000380679.4:p.Gln580Arg | |
| ENST00000572253.5:n.280A>G | ||
| ENST00000574799.5:n.1276A>G | ||
| NM_001243342.1:c.1739A>G | NP_001230271.1:p.Gln580Arg | |
| NM_017950.3:c.1739A>G | NP_060420.2:p.Gln580Arg | |
| XM_011524963.1:c.1649A>G | XP_011523265.1:p.Gln550Arg | |
| XM_011524964.1:c.560A>G | XP_011523266.1:p.Gln187Arg | |
| XM_011524965.1:c.1739A>G | XP_011523267.1:p.Gln580Arg | |
| XR_934495.1:n.1770A>G | ||
| XM_011524963.3:c.1649A>G | XP_011523265.1:p.Gln550Arg | |
| XM_011524964.3:c.560A>G | XP_011523266.1:p.Gln187Arg | |
| XM_011524965.3:c.1739A>G | XP_011523267.1:p.Gln580Arg | |
| XM_017024807.1:c.1739A>G | XP_016880296.1:p.Gln580Arg | |
| XM_024450821.1:c.1649A>G | XP_024306589.1:p.Gln550Arg | |
| XR_001752550.2:n.1770A>G | ||
| XR_934495.2:n.1770A>G | ||
| NM_017950.4:c.1739A>G MANE Select | NP_060420.2:p.Gln580Arg | |
| NM_001243342.2:c.1739A>G | NP_001230271.1:p.Gln580Arg |