Revel Score:
ENST00000326873 (MANE Select)
0.143
ENST00000405031
0.143
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000774 (NFE)
Exomes Max Group AF
0.00000822 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1206918A>C , CM000681.2:g.1206918A>C | GRCh38 |
| NC_000019.9:g.1206917A>C , CM000681.1:g.1206917A>C | GRCh37 |
| NC_000019.8:g.1157917A>C | NCBI36 |
| NG_007460.2:g.22512A>C , LRG_319:g.22512A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.5A>C | ENSP00000490268.2:p.Glu2Ala | |
| ENST00000585748.3:c.-82-11499A>C | ENSP00000477641.2:n.-82-11499A>C | |
| ENST00000585851.2:c.5A>C | ENSP00000467912.2:p.Glu2Ala | |
| ENST00000326873.12:c.5A>C MANE Select | ENSP00000324856.6:p.Glu2Ala | |
| ENST00000652231.1:c.5A>C | ENSP00000498804.1:p.Glu2Ala | |
| ENST00000326873.11:c.5A>C | ENSP00000324856.6:p.Glu2Ala | |
| ENST00000585748.2:c.-82-11499A>C | ENSP00000477641.1:n.-82-11499A>C | |
| ENST00000585851.1:c.5A>C | ENSP00000467912.1:p.Glu2Ala | |
| ENST00000586243.5:c.5A>C | ENSP00000467240.2:p.Glu2Ala | |
| ENST00000589152.5:n.95A>C | ||
| ENST00000593219.5:c.5A>C | ENSP00000466610.1:p.Glu2Ala | |
| NM_000455.4:c.5A>C , LRG_319t1:c.5A>C | NP_000446.1:p.Glu2Ala | |
| XM_005259617.1:c.5A>C | XP_005259674.1:p.Glu2Ala | |
| XM_005259618.3:c.5A>C | XP_005259675.1:p.Glu2Ala | |
| XM_011528209.1:c.-349A>C | XP_011526511.1:n.-349A>C | |
| XR_936204.1:n.630A>C | ||
| XM_005259617.3:c.5A>C | XP_005259674.1:p.Glu2Ala | |
| XM_011528209.2:c.-349A>C | XP_011526511.1:n.-349A>C | |
| XR_001753738.2:n.630A>C | ||
| XR_001753739.1:n.630A>C | ||
| XR_001753740.2:n.630A>C | ||
| NM_000455.5:c.5A>C MANE Select | NP_000446.1:p.Glu2Ala |