Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121641448C>T , CM000674.2:g.121641448C>T | GRCh38 |
| NC_000012.11:g.122079354C>T , CM000674.1:g.122079354C>T | GRCh37 |
| NC_000012.10:g.120563737C>T | NCBI36 |
| NG_007500.1:g.19874C>T , LRG_93:g.19874C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032790.3:c.711C>T , LRG_93t1:c.711C>T | NP_116179.2:p.Ile237= |
| ENST00000611718.1:c.*376C>T | ENSP00000477953.1:n.*376C>T |
| ENST00000616379.1:c.711C>T | ENSP00000480616.1:p.Ile237= |
| ENST00000617316.1:c.522C>T | ENSP00000482568.1:p.Ile174= |
| ENST00000617316.2:c.711C>T | ENSP00000482568.2:p.Ile237= |
| ENST00000646827.1:n.909C>T | |
| ENST00000698901.1:n.833C>T |