Linked Data
ClinVar Variation Id:
3399
ClinVar RCV Id:
RCV000003568
dbSNP Id:
rs137852918
gnomAD v4:
1-5887403-C-A
PubMed:
PMID:12244321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5887403C>A , CM000663.2:g.5887403C>A | GRCh38 |
| NC_000001.10:g.5947463C>A , CM000663.1:g.5947463C>A | GRCh37 |
| NC_000001.9:g.5870050C>A | NCBI36 |
| NG_011724.2:g.110069G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.2368G>T MANE Select | ENSP00000367398.4:p.Glu790Ter | |
| ENST00000378156.8:c.2368G>T | ENSP00000367398.4:p.Glu790Ter | |
| ENST00000378169.7:c.*1269G>T | ENSP00000367411.3:n.*1269G>T | |
| ENST00000466897.1:c.597G>T | ||
| ENST00000478423.6:n.2100G>T | ||
| ENST00000489180.6:c.2365G>T | ENSP00000423747.1:p.Glu789Ter | |
| ENST00000622020.4:c.2365G>T | ENSP00000481831.2:p.Glu789Ter | |
| NM_001291593.1:c.829G>T | NP_001278522.1:p.Glu277Ter | |
| NM_001291594.1:c.832G>T | NP_001278523.1:p.Glu278Ter | |
| NM_015102.4:c.2368G>T | NP_055917.1:p.Glu790Ter | |
| NR_111987.1:n.2633G>T | ||
| XM_006710563.2:c.2368G>T | XP_006710626.1:p.Glu790Ter | |
| XM_006710565.2:c.2368G>T | XP_006710628.1:p.Glu790Ter | |
| XM_011541213.1:c.2365G>T | XP_011539515.1:p.Glu789Ter | |
| XM_011541214.1:c.2368G>T | XP_011539516.1:p.Glu790Ter | |
| XM_011541215.1:c.2257G>T | XP_011539517.1:p.Glu753Ter | |
| XM_011541216.1:c.2368G>T | XP_011539518.1:p.Glu790Ter | |
| XM_011541217.1:c.2368G>T | XP_011539519.1:p.Glu790Ter | |
| XM_011541218.1:c.2368G>T | XP_011539520.1:p.Glu790Ter | |
| XM_011541219.1:c.2314G>T | XP_011539521.1:p.Glu772Ter | |
| XM_011541220.1:c.2368G>T | XP_011539522.1:p.Glu790Ter | |
| XR_946604.1:n.2406G>T | ||
| XR_946605.1:n.2245G>T | ||
| XM_006710563.3:c.2368G>T | XP_006710626.1:p.Glu790Ter | |
| XM_011541216.2:c.2368G>T | XP_011539518.1:p.Glu790Ter | |
| XM_011541217.2:c.2368G>T | XP_011539519.1:p.Glu790Ter | |
| XM_011541218.2:c.2368G>T | XP_011539520.1:p.Glu790Ter | |
| XM_017000996.1:c.2365G>T | XP_016856485.1:p.Glu789Ter | |
| XM_017000997.1:c.2368G>T | XP_016856486.1:p.Glu790Ter | |
| XM_017000998.1:c.2368G>T | XP_016856487.1:p.Glu790Ter | |
| XM_017000999.1:c.1840G>T | XP_016856488.1:p.Glu614Ter | |
| XM_017001000.2:c.1840G>T | XP_016856489.1:p.Glu614Ter | |
| XM_017001001.1:c.1570G>T | XP_016856490.1:p.Glu524Ter | |
| XM_017001002.1:c.2368G>T | XP_016856491.1:p.Glu790Ter | |
| XM_017001003.1:c.829G>T | XP_016856492.1:p.Glu277Ter | |
| XR_001737114.1:n.2406G>T | ||
| XR_001737115.1:n.2406G>T | ||
| NM_015102.5:c.2368G>T MANE Select | NP_055917.1:p.Glu790Ter | |
| NM_001291593.2:c.829G>T | NP_001278522.1:p.Glu277Ter | |
| NM_001291594.2:c.832G>T | NP_001278523.1:p.Glu278Ter | |
| NR_111987.2:n.2585G>T |