ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014214 (NFE)
Genomes Max Group AF
0.00019435 (NFE)
Exomes Max Group AF
0.00013357 (NFE)
Revel Score:
ENST00000545365
0.140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77199970A>G , CM000671.2:g.77199970A>G | GRCh38 |
| NC_000009.11:g.79814886A>G , CM000671.1:g.79814886A>G | GRCh37 |
| NC_000009.10:g.79004706A>G | NCBI36 |
| NG_008931.1:g.27526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360280.8:c.126A>G MANE Select | ENSP00000353422.3:p.Gln42= | |
| ENST00000643348.1:c.126A>G | ENSP00000493592.1:p.Gln42= | |
| ENST00000645632.1:c.126A>G | ENSP00000496361.1:p.Gln42= | |
| ENST00000357409.9:c.126A>G | ENSP00000349985.5:p.Gln42= | |
| ENST00000360280.7:c.126A>G | ENSP00000353422.3:p.Gln42= | |
| ENST00000376634.8:c.126A>G | ENSP00000365821.4:p.Gln42= | |
| ENST00000376636.7:c.126A>G | ENSP00000365823.3:p.Gln42= | |
| NM_001018037.1:c.126A>G | NP_001018047.1:p.Gln42= | |
| NM_001018038.2:c.126A>G | NP_001018048.1:p.Gln42= | |
| NM_015186.3:c.126A>G | NP_056001.1:p.Gln42= | |
| NM_033305.2:c.126A>G | NP_150648.2:p.Gln42= | |
| XR_242579.2:n.478A>G | ||
| XR_242580.3:n.478A>G | ||
| XR_929740.1:n.478A>G | ||
| XR_001746259.1:n.478A>G | ||
| XR_001746260.1:n.478A>G | ||
| NM_033305.3:c.126A>G MANE Select | NP_150648.2:p.Gln42= | |
| NM_001018037.2:c.126A>G | NP_001018047.1:p.Gln42= | |
| NM_001018038.3:c.126A>G | NP_001018048.1:p.Gln42= | |
| NM_015186.4:c.126A>G | NP_056001.1:p.Gln42= |