Revel Score:
ENST00000267622 (MANE Select)
0.065
ENST00000542257
0.065
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92004233T>C , CM000676.2:g.92004233T>C | GRCh38 |
| NC_000014.8:g.92470577T>C , CM000676.1:g.92470577T>C | GRCh37 |
| NC_000014.7:g.91540330T>C | NCBI36 |
| NG_016970.1:g.40827A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.3743A>G MANE Select | ENSP00000267622.4:p.Gln1248Arg | |
| ENST00000554357.5:c.2889A>G | ||
| NM_004239.3:c.3743A>G | NP_004230.2:p.Gln1248Arg | |
| XM_005268214.2:c.2417A>G | XP_005268271.1:p.Gln806Arg | |
| XM_005268215.2:c.1527+3407A>G | XP_005268272.1:n.1527+3407A>G | |
| XM_006720321.2:c.3740A>G | XP_006720384.1:p.Gln1247Arg | |
| XM_011537361.1:c.3743A>G | XP_011535663.1:p.Gln1248Arg | |
| XR_943560.1:n.4198A>G | ||
| NM_001321851.1:c.3740A>G | NP_001308780.1:p.Gln1247Arg | |
| NM_004239.4:c.3743A>G MANE Select | NP_004230.2:p.Gln1248Arg | |
| XM_017021787.2:c.3038A>G | XP_016877276.1:p.Gln1013Arg | |
| XM_017021788.2:c.2417A>G | XP_016877277.1:p.Gln806Arg | |
| XR_001750598.2:n.4192A>G | ||
| XR_943560.2:n.4192A>G |