ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31108591A>G , CM000670.2:g.31108591A>G | GRCh38 |
| NC_000008.10:g.30966107A>G , CM000670.1:g.30966107A>G | GRCh37 |
| NC_000008.9:g.31085649A>G | NCBI36 |
| NG_008870.1:g.80330A>G , LRG_524:g.80330A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.2089-3024A>G MANE Select | ENSP00000298139.5:n.2089-3024A>G | |
| ENST00000650667.1:c.*1703-3024A>G | ENSP00000498593.1:n.*1703-3024A>G | |
| ENST00000298139.5:c.2089-3024A>G | ENSP00000298139.5:n.2089-3024A>G | |
| ENST00000521620.5:n.722-3024A>G | ||
| NM_000553.4:c.2089-3024A>G , LRG_524t1:c.2089-3024A>G | NP_000544.2:n.2089-3024A>G | |
| XM_011544639.1:c.2008-3024A>G | XP_011542941.1:n.2008-3024A>G | |
| XM_011544640.1:c.490-3024A>G | XP_011542942.1:n.490-3024A>G | |
| XR_949470.1:n.2362-3024A>G | ||
| XR_949471.1:n.2362-3024A>G | ||
| XR_949472.1:n.2362-3024A>G | ||
| NM_000553.5:c.2089-3024A>G | NP_000544.2:n.2089-3024A>G | |
| XM_011544639.3:c.2008-3024A>G | XP_011542941.1:n.2008-3024A>G | |
| XM_024447265.1:c.1879-3024A>G | XP_024303033.1:n.1879-3024A>G | |
| XR_949470.3:n.2390-3024A>G | ||
| XR_949471.3:n.2390-3024A>G | ||
| XR_949472.3:n.2390-3024A>G | ||
| NM_000553.6:c.2089-3024A>G MANE Select | NP_000544.2:n.2089-3024A>G |