gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000515 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000032 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157409826G>A , CM000669.2:g.157409826G>A | GRCh38 |
| NC_000007.13:g.157202520G>A , CM000669.1:g.157202520G>A | GRCh37 |
| NC_000007.12:g.156895281G>A | NCBI36 |
| NG_032573.1:g.77811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.723G>A MANE Select | ENSP00000262177.4:p.Glu241= | |
| ENST00000262177.8:c.723G>A | ENSP00000262177.4:p.Glu241= | |
| ENST00000443280.5:c.378G>A | ENSP00000396267.1:p.Glu126= | |
| ENST00000459889.5:c.723G>A | ENSP00000488263.1:p.Glu241= | |
| ENST00000465908.5:n.519G>A | ||
| ENST00000634080.1:c.723G>A | ENSP00000488740.1:p.Glu241= | |
| NM_058246.3:c.723G>A | NP_490647.1:p.Glu241= | |
| XM_005249515.2:c.723G>A | XP_005249572.1:p.Glu241= | |
| XM_005249516.2:c.723G>A | XP_005249573.1:p.Glu241= | |
| XM_006715823.1:c.692-6190G>A | XP_006715886.1:n.692-6190G>A | |
| XM_011515704.1:c.723G>A | XP_011514006.1:p.Glu241= | |
| NM_001363676.1:c.378G>A | NP_001350605.1:p.Glu126= | |
| XM_005249515.3:c.723G>A | XP_005249572.1:p.Glu241= | |
| XM_006715823.2:c.692-6190G>A | XP_006715886.1:n.692-6190G>A | |
| NM_058246.4:c.723G>A MANE Select | NP_490647.1:p.Glu241= |