gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000862 (NFE)
Exomes Max Group AF
0.00000643 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7063916G>C , CM000686.2:g.7063916G>C | GRCh38 |
| NC_000024.9:g.6931957G>C , CM000686.1:g.6931957G>C | GRCh37 |
| NC_000024.8:g.6991957G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383032.6:c.224G>C MANE Select | ENSP00000372499.1:p.Ser75Thr | |
| ENST00000346432.3:c.224G>C | ENSP00000328879.4:p.Ser75Thr | |
| ENST00000355162.6:c.224G>C | ENSP00000347289.2:p.Ser75Thr | |
| ENST00000383032.5:c.224G>C | ENSP00000372499.1:p.Ser75Thr | |
| NM_033284.1:c.224G>C | NP_150600.1:p.Ser75Thr | |
| NM_134258.1:c.224G>C | NP_599020.1:p.Ser75Thr | |
| NM_134259.1:c.224G>C | NP_599021.1:p.Ser75Thr | |
| XM_005262572.2:c.266G>C | XP_005262629.1:p.Ser89Thr | |
| XM_005262572.3:c.266G>C | XP_005262629.1:p.Ser89Thr | |
| XM_017030086.1:c.224G>C | XP_016885575.1:p.Ser75Thr | |
| XM_017030087.1:c.224G>C | XP_016885576.1:p.Ser75Thr | |
| XM_024452497.1:c.224G>C | XP_024308265.1:p.Ser75Thr | |
| NM_033284.2:c.224G>C MANE Select | NP_150600.1:p.Ser75Thr | |
| NM_134258.2:c.224G>C | NP_599020.1:p.Ser75Thr | |
| NM_134259.2:c.224G>C | NP_599021.1:p.Ser75Thr |