Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431562C>T , CM000663.2:g.229431562C>T | GRCh38 |
| NC_000001.10:g.229567309C>T , CM000663.1:g.229567309C>T | GRCh37 |
| NC_000001.9:g.227633932C>T | NCBI36 |
| NG_006672.1:g.7535G>A , LRG_429:g.7535G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.993G>A | ENSP00000355644.4:p.Met331Ile | |
| ENST00000684723.1:c.936G>A | ENSP00000508084.1:p.Met312Ile | |
| ENST00000366683.3:c.702G>A | ENSP00000355644.3:p.Met234Ile | |
| ENST00000366684.7:c.1071G>A MANE Select | ENSP00000355645.3:p.Met357Ile | |
| NM_001100.3:c.1071G>A , LRG_429t1:c.1071G>A | NP_001091.1:p.Met357Ile | |
| NM_001100.4:c.1071G>A MANE Select | NP_001091.1:p.Met357Ile |