Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119759987G= , CM000663.2:g.119759987G= | GRCh38 |
| NC_000001.10:g.120302610G= , CM000663.1:g.120302610G= | GRCh37 |
| NC_000001.9:g.120104133G= | NCBI36 |
| NG_013348.1:g.13946C= , LRG_447:g.13946C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.562C= MANE Select | ENSP00000358414.3:p.Arg188= | |
| ENST00000369406.7:c.562C= | ENSP00000358414.3:p.Arg188= | |
| ENST00000476640.1:n.458C= | ||
| ENST00000544913.2:c.560-705C= | ENSP00000439495.2:n.560-705C= | |
| NM_001166107.1:c.560-705C= , LRG_447t2:c.560-705C= | NP_001159579.1:n.560-705C= | |
| NM_005518.3:c.562C= , LRG_447t1:c.562C= | NP_005509.1:p.Arg188= | |
| XM_011541313.1:c.562C= | XP_011539615.1:p.Arg188= | |
| XM_011541313.2:c.562C= | XP_011539615.1:p.Arg188= | |
| NM_005518.4:c.562C= MANE Select | NP_005509.1:p.Arg188= |