Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37725758C= , CM000684.2:g.37725758C= | GRCh38 |
| NC_000022.10:g.38121765C= , CM000684.1:g.38121765C= | GRCh37 |
| NC_000022.9:g.36451711C= | NCBI36 |
| NG_012857.1:g.33771C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039141.3:c.3202C= MANE Select | NP_001034230.1:p.Arg1068= |
| ENST00000644935.1:c.3202C= MANE Select | ENSP00000496394.1:p.Arg1068= |
| NM_001039141.2:c.3202C= | NP_001034230.1:p.Arg1068= |
| ENST00000344404.10:c.*2685C= | ENSP00000340312.6:n.*2685C= |
| ENST00000406386.7:c.3202C= | ENSP00000384312.3:p.Arg1068= |
| ENST00000455236.4:c.4159C= | ENSP00000477208.1:n.4159C= |
| ENST00000492485.5:n.3136C= |