Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121839985C>G , CM000674.2:g.121839985C>G | GRCh38 |
| NC_000012.11:g.122277891C>G , CM000674.1:g.122277891C>G | GRCh37 |
| NC_000012.10:g.120762274C>G | NCBI36 |
| NG_016461.1:g.53627G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.1018G>C MANE Select | ENSP00000289004.4:p.Val340Leu | |
| ENST00000543163.5:c.901G>C | ENSP00000441677.1:p.Val301Leu | |
| NM_001171993.1:c.901G>C | NP_001165464.1:p.Val301Leu | |
| NM_002150.2:c.1018G>C | NP_002141.1:p.Val340Leu | |
| NM_002150.3:c.1018G>C MANE Select | NP_002141.2:p.Val340Leu | |
| NM_001171993.2:c.901G>C | NP_001165464.1:p.Val301Leu |