Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992067C= , CM000675.2:g.76992067C= | GRCh38 |
| NC_000013.10:g.77566202C= , CM000675.1:g.77566202C= | GRCh37 |
| NC_000013.9:g.76464203C= | NCBI36 |
| NG_009064.1:g.5144C= , LRG_692:g.5144C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006493.2:c.116C= , LRG_692t1:c.116C= | NP_006484.1:p.Ser39= |
| ENST00000377453.7:c.116C= | ENSP00000366673.3:p.Ser39= |
| ENST00000485938.4:c.-32C= | ENSP00000482959.3:n.-32C= |
| ENST00000636183.2:c.-32C= | ENSP00000490181.2:n.-32C= |
| ENST00000636780.2:c.-32C= | ENSP00000489809.2:n.-32C= |
| XM_011534917.1:c.116C= | XP_011533219.1:p.Ser39= |