Linked Data
ClinVar Variation Id:
463828
dbSNP Id:
rs1245083102
gnomAD v2:
11-61213506-C-T
gnomAD v4:
11-61446034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446034C>T , CM000673.2:g.61446034C>T | GRCh38 |
| NC_000011.9:g.61213506C>T , CM000673.1:g.61213506C>T | GRCh37 |
| NC_000011.8:g.60970082C>T | NCBI36 |
| NG_023393.1:g.20910C>T , LRG_519:g.20910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.464C>T MANE Select | ENSP00000301761.3:p.Ala155Val | |
| ENST00000301761.6:c.464C>T | ENSP00000301761.2:p.Ala155Val | |
| ENST00000536670.5:n.396+7921C>T | ||
| ENST00000537782.5:c.*110C>T | ENSP00000469951.1:n.*110C>T | |
| ENST00000538594.5:c.370+7921C>T | ENSP00000440939.1:n.370+7921C>T | |
| ENST00000541135.5:c.377+7914C>T | ENSP00000443130.1:n.377+7914C>T | |
| ENST00000542074.1:c.*43C>T | ENSP00000469670.1:n.*43C>T | |
| ENST00000542794.5:c.*466C>T | ENSP00000439983.1:n.*466C>T | |
| ENST00000543044.2:c.428C>T | ENSP00000440219.1:p.Ala143Val | |
| ENST00000543265.1:c.*87C>T | ENSP00000443660.1:n.*87C>T | |
| ENST00000544025.5:n.465+7921C>T | ||
| ENST00000544801.5:c.370+7921C>T | ENSP00000442581.1:n.370+7921C>T | |
| ENST00000544880.1:n.374+7921C>T | ||
| NM_017841.2:c.464C>T , LRG_519t1:c.464C>T | NP_060311.1:p.Ala155Val | |
| NM_017841.4:c.464C>T MANE Select | NP_060311.1:p.Ala155Val |