Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120003007C>G , CM000670.2:g.120003007C>G | GRCh38 |
| NC_000008.10:g.121015246C>G , CM000670.1:g.121015246C>G | GRCh37 |
| NC_000008.9:g.121084427C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022783.4:c.821C>G MANE Select | NP_073620.2:p.Ser274Cys |
| ENST00000286234.6:c.821C>G MANE Select | ENSP00000286234.5:p.Ser274Cys |
| NM_001283012.1:c.518C>G | NP_001269941.1:p.Ser173Cys |
| NM_001283012.2:c.518C>G | NP_001269941.1:p.Ser173Cys |
| NM_022783.3:c.821C>G | NP_073620.2:p.Ser274Cys |
| ENST00000286234.5:c.821C>G | ENSP00000286234.5:p.Ser274Cys |
| ENST00000518057.1:n.270C>G | |
| ENST00000523492.5:c.518C>G | ENSP00000430457.1:p.Ser173Cys |
| XM_017013735.1:c.392C>G | XP_016869224.1:p.Ser131Cys |