Revel Score:
ENST00000315684
0.564
ENST00000449476
0.564
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003153 (NFE)
Genomes Max Group AF
0.0000791 (NFE)
Exomes Max Group AF
0.00002542 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8230304T>C , CM000679.2:g.8230304T>C | GRCh38 |
| NC_000017.10:g.8133622T>C , CM000679.1:g.8133622T>C | GRCh37 |
| NC_000017.9:g.8074347T>C | NCBI36 |
| NG_032148.1:g.22792A>G | |
| NG_032148.2:g.22792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2923A>G | ENSP00000462607.2:p.Arg975Gly | |
| ENST00000581729.2:c.2923A>G | ENSP00000462720.2:p.Arg975Gly | |
| ENST00000581967.2:n.3375A>G | ||
| ENST00000583254.2:n.4596A>G | ||
| ENST00000699849.1:c.2026A>G | ENSP00000514647.1:p.Arg676Gly | |
| ENST00000699850.1:n.2186A>G | ||
| ENST00000699851.1:n.2945A>G | ||
| ENST00000699852.1:c.*1501A>G | ENSP00000514648.1:n.*1501A>G | |
| ENST00000699853.1:c.2923A>G | ENSP00000514649.1:p.Arg975Gly | |
| ENST00000699854.1:n.2716A>G | ||
| ENST00000699855.1:n.3375A>G | ||
| ENST00000699856.1:c.2923A>G | ENSP00000514650.1:p.Arg975Gly | |
| ENST00000699857.1:n.2833A>G | ||
| ENST00000699858.1:c.*1536A>G | ENSP00000514651.1:n.*1536A>G | |
| ENST00000699859.1:c.2794A>G | ENSP00000514652.1:p.Arg932Gly | |
| ENST00000699860.1:n.835A>G | ||
| ENST00000699861.1:n.2945A>G | ||
| ENST00000699862.1:n.3883A>G | ||
| ENST00000449476.7:c.2818A>G | ENSP00000396018.2:p.Arg940Gly | |
| ENST00000581671.2:n.2912A>G | ||
| ENST00000643543.1:c.*1630A>G | ENSP00000494323.1:n.*1630A>G | |
| ENST00000651323.1:c.2923A>G MANE Select | ENSP00000498499.1:p.Arg975Gly | |
| ENST00000315684.12:c.2923A>G | ENSP00000313759.8:p.Arg975Gly | |
| ENST00000449476.6:c.2818A>G | ENSP00000396018.2:p.Arg940Gly | |
| ENST00000578240.1:n.1151A>G | ||
| ENST00000578441.5:n.326A>G | ||
| ENST00000578537.1:c.625A>G | ||
| ENST00000580299.1:c.94A>G | ENSP00000462607.1:p.Arg32Gly | |
| ENST00000584439.1:n.536A>G | ||
| NM_025099.5:c.2923A>G | NP_079375.3:p.Arg975Gly | |
| NR_046431.1:n.2877A>G | ||
| XM_006721577.2:c.2794A>G | XP_006721640.1:p.Arg932Gly | |
| XM_006721578.2:c.2923A>G | XP_006721641.1:p.Arg975Gly | |
| XM_006721579.2:c.2923A>G | XP_006721642.1:p.Arg975Gly | |
| XM_011524010.1:c.2818A>G | XP_011522312.1:p.Arg940Gly | |
| XM_011524011.1:c.2026A>G | XP_011522313.1:p.Arg676Gly | |
| XR_429823.2:n.2966A>G | ||
| XR_429824.2:n.2966A>G | ||
| XR_429825.1:n.2772A>G | ||
| NM_025099.6:c.2923A>G MANE Select | NP_079375.3:p.Arg975Gly | |
| XM_006721577.3:c.2794A>G | XP_006721640.1:p.Arg932Gly | |
| XM_006721578.3:c.2923A>G | XP_006721641.1:p.Arg975Gly | |
| XM_011524010.2:c.2818A>G | XP_011522312.1:p.Arg940Gly | |
| XM_011524011.2:c.2026A>G | XP_011522313.1:p.Arg676Gly | |
| XR_001752639.1:n.2837A>G | ||
| XR_001752640.1:n.2966A>G | ||
| XR_001752641.1:n.2966A>G | ||
| XR_001752642.1:n.2772A>G | ||
| XR_001752643.1:n.3396A>G | ||
| XR_002958073.1:n.2772A>G | ||
| XR_429823.3:n.2966A>G | ||
| XR_429824.3:n.2966A>G | ||
| NR_046431.2:n.2838A>G |