Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201324494C>T , CM000663.2:g.201324494C>T | GRCh38 |
| NC_000001.10:g.201293622C>T , CM000663.1:g.201293622C>T | GRCh37 |
| NC_000001.9:g.199560245C>T | NCBI36 |
| NG_023337.1:g.46043C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005337.3:c.1747C>T MANE Select | NP_001005337.1:p.Leu583= |
| ENST00000367324.8:c.1747C>T MANE Select | ENSP00000356293.4:p.Leu583= |
| NM_000299.3:c.1810C>T | NP_000290.2:p.Leu604= |
| NM_000299.4:c.1810C>T | NP_000290.2:p.Leu604= |
| NM_001005337.2:c.1747C>T | NP_001005337.1:p.Leu583= |
| ENST00000263946.7:c.1810C>T | ENSP00000263946.3:p.Leu604= |
| ENST00000352845.3:c.1810C>T | ENSP00000295597.3:p.Leu604= |
| ENST00000367324.7:c.1747C>T | ENSP00000356293.3:p.Leu583= |
| ENST00000622031.4:c.1744C>T | ENSP00000482213.1:p.Leu582= |