Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225528G>C , CM000668.2:g.3225528G>C | GRCh38 |
| NC_000006.11:g.3225762G>C , CM000668.1:g.3225762G>C | GRCh37 |
| NC_000006.10:g.3170761G>C | NCBI36 |
| NG_016715.1:g.7207C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.561C>G MANE Select | ENSP00000259818.6:p.Leu187= | |
| ENST00000680070.1:n.1491C>G | ||
| ENST00000681707.1:n.1388C>G | ||
| ENST00000681757.1:n.866C>G | ||
| ENST00000259818.7:c.561C>G | ENSP00000259818.6:p.Leu187= | |
| ENST00000473006.1:n.678C>G | ||
| NM_178012.4:c.561C>G | NP_821080.1:p.Leu187= | |
| XM_011514571.1:c.345C>G | XP_011512873.1:p.Leu115= | |
| NM_178012.5:c.561C>G MANE Select | NP_821080.1:p.Leu187= |