Linked Data
ClinVar Variation Id:
1159432
ClinVar RCV Id:
RCV001503151
dbSNP Id:
rs759767777
gnomAD v3:
1-156876483-C-T
gnomAD v4:
1-156876483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876483C>T , CM000663.2:g.156876483C>T | GRCh38 |
| NC_000001.10:g.156846275C>T , CM000663.1:g.156846275C>T | GRCh37 |
| NC_000001.9:g.155112899C>T | NCBI36 |
| NG_007493.1:g.65734C>T , LRG_261:g.65734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1536C>T | ENSP00000502725.1:p.Ile512= | |
| ENST00000392302.7:c.1536C>T | ENSP00000376120.3:p.Ile512= | |
| ENST00000497019.7:c.*308C>T | ENSP00000436804.2:n.*308C>T | |
| ENST00000524377.7:c.1716C>T MANE Select | ENSP00000431418.1:p.Ile572= | |
| ENST00000674537.1:c.1536C>T | ENSP00000502725.1:p.Ile512= | |
| ENST00000358660.3:c.1707C>T | ENSP00000351486.3:p.Ile569= | |
| ENST00000368196.7:c.1698C>T | ENSP00000357179.3:p.Ile566= | |
| ENST00000392302.6:c.1608C>T | ENSP00000376120.2:p.Ile536= | |
| ENST00000497019.6:c.*308C>T | ENSP00000436804.1:n.*308C>T | |
| ENST00000524377.5:c.1716C>T | ENSP00000431418.1:p.Ile572= | |
| ENST00000530298.5:n.2169C>T | ||
| NM_001007792.1:c.1608C>T , LRG_261t1:c.1608C>T | NP_001007793.1:p.Ile536= | |
| NM_001012331.1:c.1698C>T , LRG_261t2:c.1698C>T | NP_001012331.1:p.Ile566= | |
| NM_002529.3:c.1716C>T , LRG_261t3:c.1716C>T | NP_002520.2:p.Ile572= | |
| NM_001012331.2:c.1698C>T | NP_001012331.1:p.Ile566= | |
| NM_002529.4:c.1716C>T MANE Select | NP_002520.2:p.Ile572= |