Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456848C>G , CM000683.2:g.44456848C>G | GRCh38 |
| NC_000021.8:g.45876731C>G , CM000683.1:g.45876731C>G | GRCh37 |
| NC_000021.7:g.44701159C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.204C>G MANE Select | ENSP00000291592.4:p.Leu68= | |
| ENST00000291592.5:c.204C>G | ENSP00000291592.4:p.Leu68= | |
| NM_030891.4:c.204C>G | NP_112153.1:p.Leu68= | |
| NM_030891.5:c.204C>G | NP_112153.1:p.Leu68= | |
| NM_030891.6:c.204C>G MANE Select | NP_112153.1:p.Leu68= |