Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99832069C= , CM000672.2:g.99832069C= | GRCh38 |
| NC_000010.10:g.101591826C= , CM000672.1:g.101591826C= | GRCh37 |
| NC_000010.9:g.101581816C= | NCBI36 |
| NG_011798.1:g.54364C= | |
| NG_011798.2:g.54472C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000392.5:c.3196C= MANE Select | NP_000383.2:p.Arg1066= |
| ENST00000647814.1:c.3196C= MANE Select | ENSP00000497274.1:p.Arg1066= |
| NM_000392.4:c.3196C= | NP_000383.1:p.Arg1066= |
| ENST00000370449.8:c.3196C= | ENSP00000359478.4:p.Arg1066= |
| XM_006717630.2:c.2500C= | XP_006717693.1:p.Arg834= |
| XM_006717630.3:c.2500C= | XP_006717693.1:p.Arg834= |
| XR_945604.1:n.3385C= | |
| XR_945604.3:n.3439C= | |
| XR_945605.1:n.3387C= | |
| XR_945605.3:n.3439C= |