Linked Data
ClinVar Variation Id:
334297
ClinVar RCV Id:
RCV000317821
dbSNP Id:
rs750621192
ExAC:
2:217297513 C / T
gnomAD v2:
2-217297513-C-T
gnomAD v3:
2-216432790-C-T
gnomAD v4:
2-216432790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216432790C>T , CM000664.2:g.216432790C>T | GRCh38 |
| NC_000002.11:g.217297513C>T , CM000664.1:g.217297513C>T | GRCh37 |
| NC_000002.10:g.217005758C>T | NCBI36 |
| NG_009771.1:g.25377C>T , LRG_108:g.25377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.1407C>T | ENSP00000394410.2:p.Ile469= | |
| ENST00000430374.6:c.1407C>T | ENSP00000405077.2:p.Ile469= | |
| ENST00000444508.6:c.1407C>T | ENSP00000398969.2:p.Ile469= | |
| ENST00000697898.1:n.1768C>T | ||
| ENST00000697899.1:c.1173C>T | ENSP00000513470.1:p.Ile391= | |
| ENST00000697900.1:n.1611-2548C>T | ||
| ENST00000697901.1:c.*265C>T | ENSP00000513471.1:n.*265C>T | |
| ENST00000697902.1:n.1639C>T | ||
| ENST00000697903.1:c.1335-2548C>T | ENSP00000513472.1:n.1335-2548C>T | |
| ENST00000697904.1:c.1335-2548C>T | ENSP00000513473.1:n.1335-2548C>T | |
| ENST00000697905.1:c.1335-2548C>T | ENSP00000513474.1:n.1335-2548C>T | |
| ENST00000697906.1:c.1173C>T | ENSP00000513475.1:p.Ile391= | |
| ENST00000697907.1:c.*265C>T | ENSP00000513476.1:n.*265C>T | |
| ENST00000697908.1:n.1204C>T | ||
| ENST00000357276.9:c.1407C>T MANE Select | ENSP00000349823.4:p.Ile469= | |
| ENST00000357276.8:c.1407C>T | ENSP00000349823.4:p.Ile469= | |
| ENST00000358207.9:c.1407C>T | ENSP00000350940.5:p.Ile469= | |
| ENST00000392128.6:c.999C>T | ENSP00000375974.2:p.Ile333= | |
| ENST00000445153.1:c.80C>T | ||
| NM_001127207.1:c.1407C>T | NP_001120679.1:p.Ile469= | |
| NM_014140.3:c.1407C>T , LRG_108t1:c.1407C>T | NP_054859.2:p.Ile469= | |
| XM_005246631.2:c.1407C>T | XP_005246688.1:p.Ile469= | |
| XM_005246632.1:c.1407C>T | XP_005246689.1:p.Ile469= | |
| XM_006712557.1:c.1407C>T | XP_006712620.1:p.Ile469= | |
| XM_005246632.2:c.1407C>T | XP_005246689.1:p.Ile469= | |
| XM_017004228.2:c.495C>T | XP_016859717.1:p.Ile165= | |
| NM_001127207.2:c.1407C>T | NP_001120679.1:p.Ile469= | |
| NM_014140.4:c.1407C>T MANE Select | NP_054859.2:p.Ile469= |