Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11972977C= , CM000663.2:g.11972977C= | GRCh38 |
| NC_000001.10:g.12033034C= , CM000663.1:g.12033034C= | GRCh37 |
| NC_000001.9:g.11955621C= | NCBI36 |
| NG_008159.1:g.43289C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.2008C= MANE Select | NP_000293.2:p.Arg670= |
| ENST00000196061.5:c.2008C= MANE Select | ENSP00000196061.4:p.Arg670= |
| NM_000302.3:c.2008C= | NP_000293.2:p.Arg670= |
| NM_001316320.1:c.2149C= | NP_001303249.1:p.Arg717= |
| NM_001316320.2:c.2149C= | NP_001303249.1:p.Arg717= |
| ENST00000196061.4:c.2008C= | ENSP00000196061.4:p.Arg670= |
| ENST00000481933.1:n.1435C= | |
| ENST00000491536.5:n.384-2306C= | |
| XM_011541594.1:c.2089C= | XP_011539896.1:p.Arg697= |
| XM_024447707.1:c.1342C= | XP_024303475.1:p.Arg448= |