Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121641283C= , CM000674.2:g.121641283C= | GRCh38 |
| NC_000012.11:g.122079189C= , CM000674.1:g.122079189C= | GRCh37 |
| NC_000012.10:g.120563572C= | NCBI36 |
| NG_007500.1:g.19709C= , LRG_93:g.19709C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.668C= | ||
| ENST00000617316.2:c.546C= | ENSP00000482568.2:p.Ile182= | |
| ENST00000646827.1:n.744C= | ||
| ENST00000611718.1:c.*211C= | ENSP00000477953.1:n.*211C= | |
| ENST00000616379.1:c.546C= | ENSP00000480616.1:p.Ile182= | |
| ENST00000617316.1:c.357C= | ENSP00000482568.1:p.Ile119= | |
| NM_032790.3:c.546C= , LRG_93t1:c.546C= | NP_116179.2:p.Ile182= |