Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865710C= , CM000673.2:g.61865710C= | GRCh38 |
| NC_000011.9:g.61633182C= , CM000673.1:g.61633182C= | GRCh37 |
| NC_000011.8:g.61389758C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004265.4:c.*21C= MANE Select | NP_004256.1:n.*21C= |
| ENST00000278840.9:c.*21C= MANE Select | ENSP00000278840.4:n.*21C= |
| NM_001281501.1:c.*21C= | NP_001268430.1:n.*21C= |
| NM_001281502.1:c.*21C= | NP_001268431.1:n.*21C= |
| NM_004265.3:c.*21C= | NP_004256.1:n.*21C= |
| ENST00000257261.10:c.*21C= | ENSP00000257261.6:n.*21C= |
| ENST00000278840.8:c.*21C= | ENSP00000278840.4:n.*21C= |
| ENST00000522056.5:c.*21C= | ENSP00000429500.1:n.*21C= |
| ENST00000523235.5:n.3436C= |