Linked Data
ClinVar Variation Id:
578133
dbSNP Id:
rs1565130851
gnomAD v3:
11-61445985-C-A
gnomAD v4:
11-61445985-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61445985C>A , CM000673.2:g.61445985C>A | GRCh38 |
| NC_000011.9:g.61213457C>A , CM000673.1:g.61213457C>A | GRCh37 |
| NC_000011.8:g.60970033C>A | NCBI36 |
| NG_023393.1:g.20861C>A , LRG_519:g.20861C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.415C>A MANE Select | ENSP00000301761.3:p.Leu139Met | |
| ENST00000301761.6:c.415C>A | ENSP00000301761.2:p.Leu139Met | |
| ENST00000359614.9:c.*123C>A | ENSP00000352630.5:n.*123C>A | |
| ENST00000536670.5:n.396+7872C>A | ||
| ENST00000537782.5:c.*61C>A | ENSP00000469951.1:n.*61C>A | |
| ENST00000538594.5:c.370+7872C>A | ENSP00000440939.1:n.370+7872C>A | |
| ENST00000541135.5:c.377+7865C>A | ENSP00000443130.1:n.377+7865C>A | |
| ENST00000542074.1:c.81C>A | ENSP00000469670.1:p.Pro27= | |
| ENST00000542794.5:c.*417C>A | ENSP00000439983.1:n.*417C>A | |
| ENST00000543044.2:c.379C>A | ENSP00000440219.1:p.Leu127Met | |
| ENST00000543265.1:c.*38C>A | ENSP00000443660.1:n.*38C>A | |
| ENST00000544025.5:n.465+7872C>A | ||
| ENST00000544801.5:c.370+7872C>A | ENSP00000442581.1:n.370+7872C>A | |
| ENST00000544880.1:n.374+7872C>A | ||
| NM_017841.2:c.415C>A , LRG_519t1:c.415C>A | NP_060311.1:p.Leu139Met | |
| NM_017841.4:c.415C>A MANE Select | NP_060311.1:p.Leu139Met |