Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243630G= , CM000681.2:g.39243630G= | GRCh38 |
| NC_000019.9:g.39734270G= , CM000681.1:g.39734270G= | GRCh37 |
| NC_000019.8:g.44426110G= | NCBI36 |
| NG_042193.1:g.6342C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*2C= | ENSP00000481633.1:n.*2C= | |
| ENST00000413851.3:c.*2C= MANE Select | ENSP00000409000.2:n.*2C= | |
| ENST00000413851.2:c.*2C= | ENSP00000409000.2:n.*2C= | |
| ENST00000613087.4:c.*2C= | ENSP00000481633.1:n.*2C= | |
| XM_005258765.3:c.*2C= | XP_005258822.1:n.*2C= | |
| XM_011526757.1:c.*2C= | XP_011525059.1:n.*2C= | |
| NM_001346937.1:c.605C= | NP_001333866.1:n.605C= | |
| NM_172139.3:c.*2C= | NP_742151.2:n.*2C= | |
| NM_172139.4:c.*2C= MANE Select | NP_742151.2:n.*2C= | |
| NM_001346937.2:c.*2C= | NP_001333866.1:n.*2C= |