Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432347A>G , CM000663.2:g.229432347A>G | GRCh38 |
| NC_000001.10:g.229568094A>G , CM000663.1:g.229568094A>G | GRCh37 |
| NC_000001.9:g.227634717A>G | NCBI36 |
| NG_006672.1:g.6750T>C , LRG_429:g.6750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.539T>C | ENSP00000355644.4:p.Leu180Pro | |
| ENST00000684723.1:c.404T>C | ENSP00000508084.1:p.Leu135Pro | |
| ENST00000366683.3:c.479+60T>C | ENSP00000355644.3:n.479+60T>C | |
| ENST00000366684.7:c.539T>C MANE Select | ENSP00000355645.3:p.Leu180Pro | |
| NM_001100.3:c.539T>C , LRG_429t1:c.539T>C | NP_001091.1:p.Leu180Pro | |
| NM_001100.4:c.539T>C MANE Select | NP_001091.1:p.Leu180Pro |