Linked Data
ClinVar Variation Id:
2179354
dbSNP Id:
rs772559075
ExAC:
1:156845413 C / A
gnomAD v2:
1-156845413-C-A
gnomAD v4:
1-156875621-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875621C>A , CM000663.2:g.156875621C>A | GRCh38 |
| NC_000001.10:g.156845413C>A , CM000663.1:g.156845413C>A | GRCh37 |
| NC_000001.9:g.155112037C>A | NCBI36 |
| NG_007493.1:g.64872C>A , LRG_261:g.64872C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1276C>A | ENSP00000502725.1:p.Leu426Ile | |
| ENST00000392302.7:c.1276C>A | ENSP00000376120.3:p.Leu426Ile | |
| ENST00000497019.7:c.*48C>A | ENSP00000436804.2:n.*48C>A | |
| ENST00000524377.7:c.1456C>A MANE Select | ENSP00000431418.1:p.Leu486Ile | |
| ENST00000674537.1:c.1276C>A | ENSP00000502725.1:p.Leu426Ile | |
| ENST00000358660.3:c.1438C>A | ENSP00000351486.3:p.Leu480Ile | |
| ENST00000368196.7:c.1438C>A | ENSP00000357179.3:p.Leu480Ile | |
| ENST00000392302.6:c.1348C>A | ENSP00000376120.2:p.Leu450Ile | |
| ENST00000497019.6:c.*48C>A | ENSP00000436804.1:n.*48C>A | |
| ENST00000524377.5:c.1456C>A | ENSP00000431418.1:p.Leu486Ile | |
| ENST00000530298.5:n.1496C>A | ||
| ENST00000534682.1:n.679C>A | ||
| NM_001007792.1:c.1348C>A , LRG_261t1:c.1348C>A | NP_001007793.1:p.Leu450Ile | |
| NM_001012331.1:c.1438C>A , LRG_261t2:c.1438C>A | NP_001012331.1:p.Leu480Ile | |
| NM_002529.3:c.1456C>A , LRG_261t3:c.1456C>A | NP_002520.2:p.Leu486Ile | |
| NM_001012331.2:c.1438C>A | NP_001012331.1:p.Leu480Ile | |
| NM_002529.4:c.1456C>A MANE Select | NP_002520.2:p.Leu486Ile |