Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992003C= , CM000675.2:g.76992003C= | GRCh38 |
| NC_000013.10:g.77566138C= , CM000675.1:g.77566138C= | GRCh37 |
| NC_000013.9:g.76464139C= | NCBI36 |
| NG_009064.1:g.5080C= , LRG_692:g.5080C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-96C= | ENSP00000490181.2:n.-96C= | |
| ENST00000377453.7:c.52C= | ENSP00000366673.3:p.Gln18= | |
| NM_006493.2:c.52C= , LRG_692t1:c.52C= | NP_006484.1:p.Gln18= | |
| XM_011534917.1:c.52C= | XP_011533219.1:p.Gln18= |