Revel Score:
ENST00000263094 (MANE Select)
0.164
ENST00000433129
0.164
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06458826 (NFE)
Genomes Max Group AF
0.06255198 (NFE)
Exomes Max Group AF
0.06462671 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1043104G>A , CM000681.2:g.1043104G>A | GRCh38 |
| NC_000019.9:g.1043103G>A , CM000681.1:g.1043103G>A | GRCh37 |
| NC_000019.8:g.994103G>A | NCBI36 |
| NG_046909.1:g.8002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263094.11:c.643G>A MANE Select | ENSP00000263094.6:p.Gly215Ser | |
| ENST00000433129.6:n.1323G>A | ||
| ENST00000263094.10:c.643G>A | ENSP00000263094.6:p.Gly215Ser | |
| ENST00000433129.5:c.643G>A | ENSP00000414062.1:p.Gly215Ser | |
| ENST00000435683.6:c.229G>A | ENSP00000465322.1:p.Gly77Ser | |
| NM_019112.3:c.643G>A | NP_061985.2:p.Gly215Ser | |
| XM_006722616.1:c.643G>A | XP_006722679.1:p.Gly215Ser | |
| XM_006722617.2:c.643G>A | XP_006722680.1:p.Gly215Ser | |
| XM_011527628.1:c.643G>A | XP_011525930.1:p.Gly215Ser | |
| XM_011527629.1:c.643G>A | XP_011525931.1:p.Gly215Ser | |
| XM_011527630.1:c.643G>A | XP_011525932.1:p.Gly215Ser | |
| XM_011527631.1:c.643G>A | XP_011525933.1:p.Gly215Ser | |
| XM_011527632.1:c.187G>A | XP_011525934.1:p.Gly63Ser | |
| XM_011527633.1:c.643G>A | XP_011525935.1:p.Gly215Ser | |
| XM_011527634.1:c.643G>A | XP_011525936.1:p.Gly215Ser | |
| XM_011527635.1:c.643G>A | XP_011525937.1:p.Gly215Ser | |
| XR_936148.1:n.861G>A | ||
| XR_936149.1:n.861G>A | ||
| XR_936150.1:n.861G>A | ||
| XR_936151.1:n.861G>A | ||
| XR_936152.1:n.861G>A | ||
| XR_936153.1:n.861G>A | ||
| XR_936154.1:n.861G>A | ||
| XR_936155.1:n.861G>A | ||
| XM_011527633.2:c.643G>A | XP_011525935.1:p.Gly215Ser | |
| XM_017026143.1:c.643G>A | XP_016881632.1:p.Gly215Ser | |
| XM_024451315.1:c.643G>A | XP_024307083.1:p.Gly215Ser | |
| XM_024451316.1:c.643G>A | XP_024307084.1:p.Gly215Ser | |
| XM_024451317.1:c.643G>A | XP_024307085.1:p.Gly215Ser | |
| XM_024451318.1:c.643G>A | XP_024307086.1:p.Gly215Ser | |
| XM_024451319.1:c.643G>A | XP_024307087.1:p.Gly215Ser | |
| XM_024451320.1:c.643G>A | XP_024307088.1:p.Gly215Ser | |
| XM_024451321.1:c.643G>A | XP_024307089.1:p.Gly215Ser | |
| XM_024451322.1:c.187G>A | XP_024307090.1:p.Gly63Ser | |
| XM_024451323.1:c.643G>A | XP_024307091.1:p.Gly215Ser | |
| XR_001753585.1:n.861G>A | ||
| XR_001753586.1:n.861G>A | ||
| XR_002958240.1:n.861G>A | ||
| XR_002958241.1:n.861G>A | ||
| XR_002958242.1:n.861G>A | ||
| NM_019112.4:c.643G>A MANE Select | NP_061985.2:p.Gly215Ser |