Linked Data
dbSNP Id:
rs770386103
ExAC:
9:75435884 C / G
gnomAD v2:
9-75435884-C-G
gnomAD v4:
9-72820968-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820968C>G , CM000671.2:g.72820968C>G | GRCh38 |
| NC_000009.11:g.75435884C>G , CM000671.1:g.75435884C>G | GRCh37 |
| NC_000009.10:g.74625704C>G | NCBI36 |
| NG_008213.1:g.304168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1890C>G MANE Select | ENSP00000297784.6:p.Ser630= | |
| ENST00000644967.1:c.*330C>G | ENSP00000496159.1:n.*330C>G | |
| ENST00000645053.1:c.1258-5901C>G | ENSP00000493838.1:n.1258-5901C>G | |
| ENST00000645208.2:c.1890C>G | ENSP00000494684.1:p.Ser630= | |
| ENST00000645773.1:c.1764C>G | ENSP00000493698.1:p.Ser588= | |
| ENST00000645787.1:n.2033C>G | ||
| ENST00000646619.1:c.1452C>G | ENSP00000493726.1:p.Ser484= | |
| ENST00000651183.1:c.1452C>G | ENSP00000498723.1:p.Ser484= | |
| ENST00000297784.9:c.1890C>G | ENSP00000297784.5:p.Ser630= | |
| ENST00000340019.4:c.1890C>G | ENSP00000341433.3:p.Ser630= | |
| ENST00000469455.1:n.371C>G | ||
| ENST00000486417.5:n.788C>G | ||
| NM_138691.2:c.1890C>G | NP_619636.2:p.Ser630= | |
| XM_011518213.1:c.2478C>G | XP_011516515.1:p.Ser826= | |
| XM_017014256.1:c.1893C>G | XP_016869745.1:p.Ser631= | |
| NM_138691.3:c.1890C>G MANE Select | NP_619636.2:p.Ser630= |