Linked Data
dbSNP Id:
rs752528578
ExAC:
9:75435902 C / G
gnomAD v2:
9-75435902-C-G
gnomAD v4:
9-72820986-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820986C>G , CM000671.2:g.72820986C>G | GRCh38 |
| NC_000009.11:g.75435902C>G , CM000671.1:g.75435902C>G | GRCh37 |
| NC_000009.10:g.74625722C>G | NCBI36 |
| NG_008213.1:g.304186C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1908C>G MANE Select | ENSP00000297784.6:p.Tyr636Ter | |
| ENST00000644967.1:c.*348C>G | ENSP00000496159.1:n.*348C>G | |
| ENST00000645053.1:c.1258-5883C>G | ENSP00000493838.1:n.1258-5883C>G | |
| ENST00000645208.2:c.1908C>G | ENSP00000494684.1:p.Tyr636Ter | |
| ENST00000645773.1:c.1782C>G | ENSP00000493698.1:p.Tyr594Ter | |
| ENST00000645787.1:n.2051C>G | ||
| ENST00000646619.1:c.1470C>G | ENSP00000493726.1:p.Tyr490Ter | |
| ENST00000651183.1:c.1470C>G | ENSP00000498723.1:p.Tyr490Ter | |
| ENST00000297784.9:c.1908C>G | ENSP00000297784.5:p.Tyr636Ter | |
| ENST00000340019.4:c.1908C>G | ENSP00000341433.3:p.Tyr636Ter | |
| ENST00000469455.1:n.389C>G | ||
| ENST00000486417.5:n.806C>G | ||
| NM_138691.2:c.1908C>G | NP_619636.2:p.Tyr636Ter | |
| XM_011518213.1:c.2496C>G | XP_011516515.1:p.Tyr832Ter | |
| XM_017014256.1:c.1911C>G | XP_016869745.1:p.Tyr637Ter | |
| NM_138691.3:c.1908C>G MANE Select | NP_619636.2:p.Tyr636Ter |