Revel Score:
ENST00000405031
0.132
ENST00000326873 (MANE Select)
0.250
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000451 (AFR)
Exomes Max Group AF
0.00001029 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226589G>A , CM000681.2:g.1226589G>A | GRCh38 |
| NC_000019.9:g.1226588G>A , CM000681.1:g.1226588G>A | GRCh37 |
| NC_000019.8:g.1177588G>A | NCBI36 |
| NG_007460.2:g.42183G>A , LRG_319:g.42183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2845G>A | ENSP00000490268.2:n.*2845G>A | |
| ENST00000585748.3:c.872G>A | ENSP00000477641.2:p.Arg291His | |
| ENST00000585851.2:c.1070G>A | ENSP00000467912.2:p.Arg357His | |
| ENST00000326873.12:c.1244G>A MANE Select | ENSP00000324856.6:p.Arg415His | |
| ENST00000326873.11:c.1244G>A | ENSP00000324856.6:p.Arg415His | |
| ENST00000585465.2:n.2977G>A | ||
| ENST00000586243.5:c.1243G>A | ENSP00000467240.2:p.Ala415Thr | |
| ENST00000589152.5:n.1942G>A | ||
| NM_000455.4:c.1244G>A , LRG_319t1:c.1244G>A | NP_000446.1:p.Arg415His | |
| XM_005259617.1:c.1239G>A | XP_005259674.1:p.Pro413= | |
| XM_011528209.1:c.1017G>A | XP_011526511.1:p.Pro339= | |
| XM_005259617.3:c.1239G>A | XP_005259674.1:p.Pro413= | |
| XM_011528209.2:c.1017G>A | XP_011526511.1:p.Pro339= | |
| XR_001753738.2:n.2050G>A | ||
| XR_001753740.2:n.2020G>A | ||
| NM_000455.5:c.1244G>A MANE Select | NP_000446.1:p.Arg415His |