dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Revel Score:
ENST00000297784 (MANE Select)
0.332
ENST00000340019
0.332
ENST00000396235
0.332
ENST00000537917
0.332
ENST00000538054
0.332
ENST00000542143
0.332
ENST00000396237
0.332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72789264C>G , CM000671.2:g.72789264C>G | GRCh38 |
| NC_000009.11:g.75404180C>G , CM000671.1:g.75404180C>G | GRCh37 |
| NC_000009.10:g.74594000C>G | NCBI36 |
| NG_008213.1:g.272464C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1171C>G MANE Select | ENSP00000297784.6:p.Gln391Glu | |
| ENST00000644967.1:c.733C>G | ENSP00000496159.1:p.Gln245Glu | |
| ENST00000645053.1:c.733C>G | ENSP00000493838.1:p.Gln245Glu | |
| ENST00000645208.2:c.1171C>G | ENSP00000494684.1:p.Gln391Glu | |
| ENST00000645773.1:c.1045C>G | ENSP00000493698.1:p.Gln349Glu | |
| ENST00000645787.1:n.1211C>G | ||
| ENST00000646619.1:c.733C>G | ENSP00000493726.1:p.Gln245Glu | |
| ENST00000650689.1:n.1469C>G | ||
| ENST00000651183.1:c.733C>G | ENSP00000498723.1:p.Gln245Glu | |
| ENST00000297784.9:c.1171C>G | ENSP00000297784.5:p.Gln391Glu | |
| ENST00000340019.4:c.1171C>G | ENSP00000341433.3:p.Gln391Glu | |
| NM_138691.2:c.1171C>G | NP_619636.2:p.Gln391Glu | |
| XM_011518213.1:c.1759C>G | XP_011516515.1:p.Gln587Glu | |
| XM_017014256.1:c.1174C>G | XP_016869745.1:p.Gln392Glu | |
| NM_138691.3:c.1171C>G MANE Select | NP_619636.2:p.Gln391Glu |