Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007641C= , CM000663.2:g.94007641C= | GRCh38 |
| NC_000001.10:g.94473197C= , CM000663.1:g.94473197C= | GRCh37 |
| NC_000001.9:g.94245785C= | NCBI36 |
| NG_009073.1:g.118509G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5998G= MANE Select | ENSP00000359245.3:p.Gly2000= | |
| ENST00000370225.3:c.5998G= | ENSP00000359245.3:p.Gly2000= | |
| ENST00000465352.1:n.414G= | ||
| ENST00000484388.1:n.112G= | ||
| ENST00000536513.5:c.2374G= | ENSP00000439707.2:p.Gly792= | |
| NM_000350.2:c.5998G= | NP_000341.2:p.Gly2000= | |
| NM_000350.3:c.5998G= MANE Select | NP_000341.2:p.Gly2000= |