Linked Data
dbSNP Id:
rs779595582
ExAC:
9:75435833 C / G
gnomAD v2:
9-75435833-C-G
gnomAD v4:
9-72820917-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820917C>G , CM000671.2:g.72820917C>G | GRCh38 |
| NC_000009.11:g.75435833C>G , CM000671.1:g.75435833C>G | GRCh37 |
| NC_000009.10:g.74625653C>G | NCBI36 |
| NG_008213.1:g.304117C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1839C>G MANE Select | ENSP00000297784.6:p.Cys613Trp | |
| ENST00000644967.1:c.*279C>G | ENSP00000496159.1:n.*279C>G | |
| ENST00000645053.1:c.1258-5952C>G | ENSP00000493838.1:n.1258-5952C>G | |
| ENST00000645208.2:c.1839C>G | ENSP00000494684.1:p.Cys613Trp | |
| ENST00000645773.1:c.1713C>G | ENSP00000493698.1:p.Cys571Trp | |
| ENST00000645787.1:n.1982C>G | ||
| ENST00000646619.1:c.1401C>G | ENSP00000493726.1:p.Cys467Trp | |
| ENST00000651183.1:c.1401C>G | ENSP00000498723.1:p.Cys467Trp | |
| ENST00000297784.9:c.1839C>G | ENSP00000297784.5:p.Cys613Trp | |
| ENST00000340019.4:c.1839C>G | ENSP00000341433.3:p.Cys613Trp | |
| ENST00000469455.1:n.320C>G | ||
| ENST00000486417.5:n.737C>G | ||
| NM_138691.2:c.1839C>G | NP_619636.2:p.Cys613Trp | |
| XM_011518213.1:c.2427C>G | XP_011516515.1:p.Cys809Trp | |
| XM_017014256.1:c.1842C>G | XP_016869745.1:p.Cys614Trp | |
| NM_138691.3:c.1839C>G MANE Select | NP_619636.2:p.Cys613Trp |