Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37723595C= , CM000684.2:g.37723595C= | GRCh38 |
| NC_000022.10:g.38119602C= , CM000684.1:g.38119602C= | GRCh37 |
| NC_000022.9:g.36449548C= | NCBI36 |
| NG_012857.1:g.31608C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039141.3:c.1039C= MANE Select | NP_001034230.1:p.Arg347= |
| ENST00000644935.1:c.1039C= MANE Select | ENSP00000496394.1:p.Arg347= |
| NM_001039141.2:c.1039C= | NP_001034230.1:p.Arg347= |
| ENST00000344404.10:c.*522C= | ENSP00000340312.6:n.*522C= |
| ENST00000406386.7:c.1039C= | ENSP00000384312.3:p.Arg347= |
| ENST00000455236.4:c.1996C= | ENSP00000477208.1:n.1996C= |
| ENST00000492485.5:n.973C= |