gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027656 (EAS)
Genomes Max Group AF
0.00006832 (EAS)
Exomes Max Group AF
0.00027261 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13112527G>A , CM000672.2:g.13112527G>A | GRCh38 |
| NC_000010.10:g.13154527G>A , CM000672.1:g.13154527G>A | GRCh37 |
| NC_000010.9:g.13194533G>A | NCBI36 |
| NG_012876.1:g.17446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.444G>A MANE Select | ENSP00000368021.3:p.Val148= | |
| ENST00000263036.9:c.444G>A | ENSP00000263036.3:p.Val148= | |
| ENST00000378747.7:c.444G>A | ENSP00000368021.3:p.Val148= | |
| ENST00000378748.7:c.444G>A | ENSP00000368022.3:p.Val148= | |
| ENST00000378752.7:c.444G>A | ENSP00000368027.3:p.Val148= | |
| ENST00000378757.6:c.444G>A | ENSP00000368032.2:p.Val148= | |
| ENST00000378764.6:c.444G>A | ENSP00000368040.1:p.Val148= | |
| ENST00000430081.5:c.*349G>A | ENSP00000414747.2:n.*349G>A | |
| ENST00000482140.5:c.*64G>A | ENSP00000484961.1:n.*64G>A | |
| ENST00000486862.1:c.41G>A | ||
| NM_001008211.1:c.444G>A | NP_001008212.1:p.Val148= | |
| NM_001008212.1:c.444G>A | NP_001008213.1:p.Val148= | |
| NM_001008213.1:c.444G>A | NP_001008214.1:p.Val148= | |
| NM_021980.4:c.444G>A | NP_068815.2:p.Val148= | |
| XM_005252336.2:c.444G>A | XP_005252393.2:p.Val148= | |
| XM_005252337.3:c.444G>A | XP_005252394.2:p.Val148= | |
| XM_005252338.2:c.273G>A | XP_005252395.2:p.Val91= | |
| NM_001008212.2:c.444G>A MANE Select | NP_001008213.1:p.Val148= |