Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845020G= , CM000678.2:g.28845020G= | GRCh38 |
| NC_000016.9:g.28856341G= , CM000678.1:g.28856341G= | GRCh37 |
| NC_000016.8:g.28763842G= | NCBI36 |
| NG_008964.1:g.6389C= | |
| NG_029706.2:g.3421G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.450C= MANE Select | ENSP00000322439.3:p.Cys150= | |
| ENST00000313511.7:c.450C= | ENSP00000322439.3:p.Cys150= | |
| ENST00000565012.1:c.283C= | ENSP00000455007.1:p.His95= | |
| NM_003321.4:c.450C= | NP_003312.3:p.Cys150= | |
| XM_011545928.1:c.450C= | XP_011544230.1:p.Cys150= | |
| NM_001365360.1:c.450C= | NP_001352289.1:p.Cys150= | |
| NM_003321.5:c.450C= MANE Select | NP_003312.3:p.Cys150= | |
| NM_001365360.2:c.450C= | NP_001352289.1:p.Cys150= |