Revel Score:
ENST00000326873 (MANE Select)
0.132
ENST00000405031
0.132
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008158 (AFR)
Genomes Max Group AF
0.00007893 (AFR)
Exomes Max Group AF
0.00004085 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226472A>C , CM000681.2:g.1226472A>C | GRCh38 |
| NC_000019.9:g.1226471A>C , CM000681.1:g.1226471A>C | GRCh37 |
| NC_000019.8:g.1177471A>C | NCBI36 |
| NG_007460.2:g.42066A>C , LRG_319:g.42066A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2728A>C | ENSP00000490268.2:n.*2728A>C | |
| ENST00000585748.3:c.755A>C | ENSP00000477641.2:p.Glu252Ala | |
| ENST00000585851.2:c.953A>C | ENSP00000467912.2:p.Glu318Ala | |
| ENST00000326873.12:c.1127A>C MANE Select | ENSP00000324856.6:p.Glu376Ala | |
| ENST00000326873.11:c.1127A>C | ENSP00000324856.6:p.Glu376Ala | |
| ENST00000585465.2:n.2860A>C | ||
| ENST00000586243.5:c.1127A>C | ENSP00000467240.2:p.Glu376Ala | |
| ENST00000589152.5:n.1825A>C | ||
| NM_000455.4:c.1127A>C , LRG_319t1:c.1127A>C | NP_000446.1:p.Glu376Ala | |
| XM_005259617.1:c.1122A>C | XP_005259674.1:p.Gly374= | |
| XM_011528209.1:c.900A>C | XP_011526511.1:p.Gly300= | |
| XM_005259617.3:c.1122A>C | XP_005259674.1:p.Gly374= | |
| XM_011528209.2:c.900A>C | XP_011526511.1:p.Gly300= | |
| XR_001753738.2:n.1933A>C | ||
| XR_001753740.2:n.1903A>C | ||
| NM_000455.5:c.1127A>C MANE Select | NP_000446.1:p.Glu376Ala |