Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137709759T>C , CM000667.2:g.137709759T>C | GRCh38 |
| NC_000005.9:g.137045448T>C , CM000667.1:g.137045448T>C | GRCh37 |
| NC_000005.8:g.137073347T>C | NCBI36 |
| NG_032569.1:g.31332A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.232A>G MANE Select | ENSP00000312397.4:p.Met78Val | |
| ENST00000309755.8:c.232A>G | ENSP00000312397.4:p.Met78Val | |
| ENST00000505853.1:c.112A>G | ENSP00000426173.1:p.Met38Val | |
| ENST00000508657.5:c.136A>G | ENSP00000422099.1:p.Met46Val | |
| ENST00000512977.1:n.369A>G | ||
| NM_001257194.1:c.136A>G | NP_001244123.1:p.Met46Val | |
| NM_017415.2:c.232A>G | NP_059111.2:p.Met78Val | |
| NM_017415.3:c.232A>G MANE Select | NP_059111.2:p.Met78Val |