Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432313C>A , CM000663.2:g.229432313C>A | GRCh38 |
| NC_000001.10:g.229568060C>A , CM000663.1:g.229568060C>A | GRCh37 |
| NC_000001.9:g.227634683C>A | NCBI36 |
| NG_006672.1:g.6784G>T , LRG_429:g.6784G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.573G>T | ENSP00000355644.4:p.Leu191= | |
| ENST00000684723.1:c.438G>T | ENSP00000508084.1:p.Leu146= | |
| ENST00000366683.3:c.479+94G>T | ENSP00000355644.3:n.479+94G>T | |
| ENST00000366684.7:c.573G>T MANE Select | ENSP00000355645.3:p.Leu191= | |
| NM_001100.3:c.573G>T , LRG_429t1:c.573G>T | NP_001091.1:p.Leu191= | |
| NM_001100.4:c.573G>T MANE Select | NP_001091.1:p.Leu191= |