Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115705208G= , CM000663.2:g.115705208G= | GRCh38 |
| NC_000001.10:g.116247829G= , CM000663.1:g.116247829G= | GRCh37 |
| NC_000001.9:g.116049352G= | NCBI36 |
| NG_008802.1:g.68598C= , LRG_404:g.68598C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*295C= | ENSP00000518226.1:n.*295C= | |
| ENST00000261448.6:c.923C= MANE Select | ENSP00000261448.5:p.Pro308= | |
| ENST00000261448.5:c.923C= | ENSP00000261448.5:p.Pro308= | |
| NM_001232.3:c.923C= , LRG_404t1:c.923C= | NP_001223.2:p.Pro308= | |
| NM_001232.4:c.923C= MANE Select | NP_001223.2:p.Pro308= |