Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627030C>T , CM000674.2:g.121627030C>T | GRCh38 |
| NC_000012.11:g.122064936C>T , CM000674.1:g.122064936C>T | GRCh37 |
| NC_000012.10:g.120549319C>T | NCBI36 |
| NG_007500.1:g.5456C>T , LRG_93:g.5456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+97C>T | ||
| ENST00000617316.2:c.283C>T | ENSP00000482568.2:p.Leu95= | |
| ENST00000646827.1:n.481C>T | ||
| ENST00000611718.1:c.94C>T | ENSP00000477953.1:p.Leu32= | |
| ENST00000616379.1:c.283C>T | ENSP00000480616.1:p.Leu95= | |
| ENST00000617316.1:c.94C>T | ENSP00000482568.1:p.Leu32= | |
| NM_032790.3:c.283C>T , LRG_93t1:c.283C>T | NP_116179.2:p.Leu95= |