ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875609A>T , CM000663.2:g.156875609A>T | GRCh38 |
| NC_000001.10:g.156845401A>T , CM000663.1:g.156845401A>T | GRCh37 |
| NC_000001.9:g.155112025A>T | NCBI36 |
| NG_007493.1:g.64860A>T , LRG_261:g.64860A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1264A>T | ENSP00000502725.1:p.Lys422Ter | |
| ENST00000392302.7:c.1264A>T | ENSP00000376120.3:p.Lys422Ter | |
| ENST00000497019.7:c.*36A>T | ENSP00000436804.2:n.*36A>T | |
| ENST00000524377.7:c.1444A>T MANE Select | ENSP00000431418.1:p.Lys482Ter | |
| ENST00000674537.1:c.1264A>T | ENSP00000502725.1:p.Lys422Ter | |
| ENST00000358660.3:c.1426A>T | ENSP00000351486.3:p.Lys476Ter | |
| ENST00000368196.7:c.1426A>T | ENSP00000357179.3:p.Lys476Ter | |
| ENST00000392302.6:c.1336A>T | ENSP00000376120.2:p.Lys446Ter | |
| ENST00000497019.6:c.*36A>T | ENSP00000436804.1:n.*36A>T | |
| ENST00000524377.5:c.1444A>T | ENSP00000431418.1:p.Lys482Ter | |
| ENST00000530298.5:n.1484A>T | ||
| ENST00000534682.1:n.667A>T | ||
| NM_001007792.1:c.1336A>T , LRG_261t1:c.1336A>T | NP_001007793.1:p.Lys446Ter | |
| NM_001012331.1:c.1426A>T , LRG_261t2:c.1426A>T | NP_001012331.1:p.Lys476Ter | |
| NM_002529.3:c.1444A>T , LRG_261t3:c.1444A>T | NP_002520.2:p.Lys482Ter | |
| NM_001012331.2:c.1426A>T | NP_001012331.1:p.Lys476Ter | |
| NM_002529.4:c.1444A>T MANE Select | NP_002520.2:p.Lys482Ter |