Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969361G>C , CM000685.2:g.154969361G>C | GRCh38 |
| NC_000023.10:g.154197636G>C , CM000685.1:g.154197636G>C | GRCh37 |
| NC_000023.9:g.153850830G>C | NCBI36 |
| NG_011403.1:g.58363C>G | |
| NG_011403.2:g.58363C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.979C>G MANE Select | NP_000123.1:p.Leu327Val |
| ENST00000360256.9:c.979C>G MANE Select | ENSP00000353393.4:p.Leu327Val |
| NM_000132.3:c.979C>G | NP_000123.1:p.Leu327Val |
| ENST00000360256.8:c.979C>G | ENSP00000353393.4:p.Leu327Val |
| ENST00000647125.1:c.*855C>G | ENSP00000496062.1:n.*855C>G |
| XM_011531126.1:c.874C>G | XP_011529428.1:p.Leu292Val |