Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432354T>G , CM000663.2:g.229432354T>G | GRCh38 |
| NC_000001.10:g.229568101T>G , CM000663.1:g.229568101T>G | GRCh37 |
| NC_000001.9:g.227634724T>G | NCBI36 |
| NG_006672.1:g.6743A>C , LRG_429:g.6743A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.532A>C | ENSP00000355644.4:p.Met178Leu | |
| ENST00000684723.1:c.397A>C | ENSP00000508084.1:p.Met133Leu | |
| ENST00000366683.3:c.479+53A>C | ENSP00000355644.3:n.479+53A>C | |
| ENST00000366684.7:c.532A>C MANE Select | ENSP00000355645.3:p.Met178Leu | |
| NM_001100.3:c.532A>C , LRG_429t1:c.532A>C | NP_001091.1:p.Met178Leu | |
| NM_001100.4:c.532A>C MANE Select | NP_001091.1:p.Met178Leu |