Revel Score:
ENST00000269886 (MANE Select)
0.236
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4365494C>T , CM000681.2:g.4365494C>T | GRCh38 |
| NC_000019.9:g.4365491C>T , CM000681.1:g.4365491C>T | GRCh37 |
| NC_000019.8:g.4316491C>T | NCBI36 |
| NG_028084.1:g.40075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269886.7:c.319G>A MANE Select | ENSP00000269886.2:p.Glu107Lys | |
| ENST00000417295.6:c.187+1007G>A | ENSP00000404568.2:n.187+1007G>A | |
| ENST00000593591.5:c.214G>A | ENSP00000471260.1:p.Glu72Lys | |
| ENST00000598230.5:c.214G>A | ENSP00000469766.1:p.Glu72Lys | |
| ENST00000598564.5:c.240+79G>A | ENSP00000470792.1:n.240+79G>A | |
| NM_001199943.1:c.187+1007G>A | NP_001186872.1:n.187+1007G>A | |
| NM_001199944.1:c.240+79G>A | NP_001186873.1:n.240+79G>A | |
| NM_003025.3:c.319G>A | NP_003016.1:p.Glu107Lys | |
| XM_011528183.1:c.214G>A | XP_011526485.1:p.Glu72Lys | |
| XM_011528183.2:c.214G>A | XP_011526485.1:p.Glu72Lys | |
| XM_017027146.1:c.289G>A | XP_016882635.1:p.Glu97Lys | |
| NM_003025.4:c.319G>A MANE Select | NP_003016.1:p.Glu107Lys | |
| NM_001199943.2:c.187+1007G>A | NP_001186872.1:n.187+1007G>A | |
| NM_001199944.2:c.240+79G>A | NP_001186873.1:n.240+79G>A |