gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003588 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218434381C>T , CM000663.2:g.218434381C>T | GRCh38 |
| NC_000001.10:g.218607723C>T , CM000663.1:g.218607723C>T | GRCh37 |
| NC_000001.9:g.216674346C>T | NCBI36 |
| NG_027721.1:g.94048C>T | |
| NG_027721.2:g.94048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.687C>T MANE Select | ENSP00000355897.4:p.Cys229= | |
| ENST00000366929.4:c.771C>T | ENSP00000355896.4:p.Cys257= | |
| ENST00000366930.8:c.687C>T | ENSP00000355897.4:p.Cys229= | |
| ENST00000479322.1:n.171C>T | ||
| NM_001135599.2:c.771C>T | NP_001129071.1:p.Cys257= | |
| NM_003238.3:c.687C>T | NP_003229.1:p.Cys229= | |
| NM_001135599.3:c.771C>T | NP_001129071.1:p.Cys257= | |
| NM_003238.4:c.687C>T | NP_003229.1:p.Cys229= | |
| NR_138148.1:n.2105C>T | ||
| NR_138149.1:n.2189C>T | ||
| NM_003238.5:c.687C>T | NP_003229.1:p.Cys229= | |
| NM_003238.6:c.687C>T MANE Select | NP_003229.1:p.Cys229= | |
| NM_001135599.4:c.771C>T | NP_001129071.1:p.Cys257= | |
| NR_138148.2:n.2053C>T | ||
| NR_138149.2:n.2137C>T |