Revel Score:
ENST00000304283 (MANE Select)
0.341
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002826 (NFE)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00002743 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4727017T>C , CM000678.2:g.4727017T>C | GRCh38 |
| NC_000016.9:g.4777018T>C , CM000678.1:g.4777018T>C | GRCh37 |
| NC_000016.8:g.4717019T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304283.9:c.331A>G MANE Select | ENSP00000304586.4:p.Ser111Gly | |
| ENST00000304283.8:c.331A>G | ENSP00000304586.4:p.Ser111Gly | |
| ENST00000446014.6:c.-18-237A>G | ENSP00000406796.2:n.-18-237A>G | |
| ENST00000450067.6:c.171-2186A>G | ENSP00000388270.3:n.171-2186A>G | |
| ENST00000585773.5:c.112A>G | ENSP00000465294.1:p.Ser38Gly | |
| ENST00000586159.5:c.171-237A>G | ENSP00000465454.1:n.171-237A>G | |
| ENST00000586166.5:c.-46+7139A>G | ENSP00000465373.1:n.-46+7139A>G | |
| ENST00000586605.5:c.-28-2186A>G | ENSP00000468234.1:n.-28-2186A>G | |
| ENST00000587005.5:c.331A>G | ENSP00000465361.1:p.Ser111Gly | |
| ENST00000589065.5:c.171-2186A>G | ENSP00000466362.1:n.171-2186A>G | |
| ENST00000590147.5:c.331A>G | ENSP00000468380.1:p.Ser111Gly | |
| ENST00000590193.5:c.331A>G | ENSP00000467591.1:p.Ser111Gly | |
| ENST00000590730.5:c.170+2963A>G | ENSP00000466162.1:n.170+2963A>G | |
| ENST00000590803.5:n.153A>G | ||
| ENST00000591281.5:c.171-237A>G | ENSP00000467474.1:n.171-237A>G | |
| ENST00000591653.5:n.1062A>G | ||
| ENST00000592068.5:c.171-2186A>G | ENSP00000465306.1:n.171-2186A>G | |
| ENST00000592077.5:c.171-237A>G | ENSP00000465203.1:n.171-237A>G | |
| ENST00000592190.1:c.331A>G | ENSP00000465566.1:p.Ser111Gly | |
| ENST00000592421.5:c.171-2186A>G | ENSP00000466228.1:n.171-2186A>G | |
| ENST00000592698.5:c.-362A>G | ENSP00000467783.1:n.-362A>G | |
| ENST00000592711.5:c.171-2186A>G | ENSP00000468464.1:n.171-2186A>G | |
| ENST00000593120.5:n.210-2186A>G | ||
| ENST00000614075.4:c.331A>G | ENSP00000480350.1:p.Ser111Gly | |
| NM_001242929.1:c.171-2186A>G | NP_001229858.1:n.171-2186A>G | |
| NM_001308089.1:c.-18-237A>G | NP_001295018.1:n.-18-237A>G | |
| NM_133450.3:c.331A>G | NP_597707.1:p.Ser111Gly | |
| NR_040252.1:n.555A>G | ||
| XM_005255119.3:c.-18-237A>G | XP_005255176.1:n.-18-237A>G | |
| XM_005255121.3:c.-46+2963A>G | XP_005255178.1:n.-46+2963A>G | |
| XM_011522372.1:c.367A>G | XP_011520674.1:p.Ser123Gly | |
| XM_011522373.1:c.331A>G | XP_011520675.1:p.Ser111Gly | |
| XM_011522374.1:c.171-2186A>G | XP_011520676.1:n.171-2186A>G | |
| XM_011522376.1:c.-28-2186A>G | XP_011520678.1:n.-28-2186A>G | |
| XM_011522377.1:c.367A>G | XP_011520679.1:p.Ser123Gly | |
| XM_011522378.1:c.-360-237A>G | XP_011520680.1:n.-360-237A>G | |
| NM_001324129.1:c.-28-2186A>G | NP_001311058.1:n.-28-2186A>G | |
| NM_001324130.1:c.-609A>G | NP_001311059.1:n.-609A>G | |
| XM_017022935.1:c.207-2186A>G | XP_016878424.1:n.207-2186A>G | |
| XM_017022936.1:c.-277A>G | XP_016878425.1:n.-277A>G | |
| XM_024450152.1:c.331A>G | XP_024305920.1:p.Ser111Gly | |
| XM_024450153.1:c.-67A>G | XP_024305921.1:n.-67A>G | |
| XM_024450154.1:c.-374-2186A>G | XP_024305922.1:n.-374-2186A>G | |
| XR_001751840.1:n.556A>G | ||
| XR_002957774.1:n.556A>G | ||
| NM_001308089.2:c.-18-237A>G | NP_001295018.1:n.-18-237A>G | |
| NM_001324129.2:c.-28-2186A>G | NP_001311058.1:n.-28-2186A>G | |
| NM_001324130.2:c.-609A>G | NP_001311059.1:n.-609A>G | |
| NM_133450.4:c.331A>G MANE Select | NP_597707.1:p.Ser111Gly | |
| NR_040252.2:n.449A>G | ||
| NM_001242929.2:c.171-2186A>G | NP_001229858.1:n.171-2186A>G |