Revel Score:
ENST00000372748 (MANE Select)
0.383
ENST00000427563
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013693 (NFE)
Genomes Max Group AF
0.00008884 (AMR)
Exomes Max Group AF
0.00013732 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40303808T>C , CM000663.2:g.40303808T>C | GRCh38 |
| NC_000001.10:g.40769480T>C , CM000663.1:g.40769480T>C | GRCh37 |
| NC_000001.9:g.40542067T>C | NCBI36 |
| NG_008031.1:g.18460A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.1400A>G MANE Select | ENSP00000361834.3:p.Gln467Arg | |
| ENST00000372748.7:c.1400A>G | ENSP00000361834.3:p.Gln467Arg | |
| ENST00000427563.1:c.211A>G | ENSP00000407377.1:p.Ser71Gly | |
| ENST00000466267.1:n.365A>G | ||
| ENST00000482722.5:n.1703A>G | ||
| NM_001852.3:c.1400A>G | NP_001843.1:p.Gln467Arg | |
| XM_006710365.2:c.1400A>G | XP_006710428.1:p.Gln467Arg | |
| XM_011540714.1:c.1412A>G | XP_011539016.1:p.Gln471Arg | |
| XM_011540715.1:c.1130A>G | XP_011539017.1:p.Gln377Arg | |
| XM_011540716.1:c.1130A>G | XP_011539018.1:p.Gln377Arg | |
| XM_011540717.1:c.857A>G | XP_011539019.1:p.Gln286Arg | |
| XM_006710365.3:c.1400A>G | XP_006710428.1:p.Gln467Arg | |
| XM_011540715.2:c.1130A>G | XP_011539017.1:p.Gln377Arg | |
| XM_011540716.2:c.1130A>G | XP_011539018.1:p.Gln377Arg | |
| XM_011540717.2:c.857A>G | XP_011539019.1:p.Gln286Arg | |
| XM_017000332.1:c.1412A>G | XP_016855821.1:p.Gln471Arg | |
| XM_017000333.1:c.1118A>G | XP_016855822.1:p.Gln373Arg | |
| NM_001852.4:c.1400A>G MANE Select | NP_001843.1:p.Gln467Arg |