Revel Score:
ENST00000374877
0.032
ENST00000397545 (MANE Select)
0.032
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00471231 (EAS)
Genomes Max Group AF
0.00638109 (EAS)
Exomes Max Group AF
0.00430067 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80086154C>G , CM000679.2:g.80086154C>G | GRCh38 |
| NC_000017.10:g.78059953C>G , CM000679.1:g.78059953C>G | GRCh37 |
| NC_000017.9:g.75674548C>G | NCBI36 |
| NG_029761.1:g.54523C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2387C>G MANE Select | ENSP00000380679.4:p.Ala796Gly | |
| ENST00000374877.7:c.2387C>G | ENSP00000364011.3:p.Ala796Gly | |
| ENST00000397545.8:c.2387C>G | ENSP00000380679.4:p.Ala796Gly | |
| ENST00000572253.5:n.1014C>G | ||
| ENST00000574799.5:n.1924C>G | ||
| NM_001243342.1:c.2387C>G | NP_001230271.1:p.Ala796Gly | |
| NM_017950.3:c.2387C>G | NP_060420.2:p.Ala796Gly | |
| XM_011524963.1:c.2297C>G | XP_011523265.1:p.Ala766Gly | |
| XM_011524964.1:c.1208C>G | XP_011523266.1:p.Ala403Gly | |
| XR_934495.1:n.2418C>G | ||
| XM_011524963.3:c.2297C>G | XP_011523265.1:p.Ala766Gly | |
| XM_011524964.3:c.1208C>G | XP_011523266.1:p.Ala403Gly | |
| XM_024450821.1:c.2297C>G | XP_024306589.1:p.Ala766Gly | |
| XR_001752550.2:n.2418C>G | ||
| XR_934495.2:n.2418C>G | ||
| NM_017950.4:c.2387C>G MANE Select | NP_060420.2:p.Ala796Gly | |
| NM_001243342.2:c.2387C>G | NP_001230271.1:p.Ala796Gly |