Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991999G>A , CM000675.2:g.76991999G>A | GRCh38 |
| NC_000013.10:g.77566134G>A , CM000675.1:g.77566134G>A | GRCh37 |
| NC_000013.9:g.76464135G>A | NCBI36 |
| NG_009064.1:g.5076G>A , LRG_692:g.5076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-100G>A | ENSP00000490181.2:n.-100G>A | |
| ENST00000377453.7:c.48G>A | ENSP00000366673.3:p.Gln16= | |
| NM_006493.2:c.48G>A , LRG_692t1:c.48G>A | NP_006484.1:p.Gln16= | |
| XM_011534917.1:c.48G>A | XP_011533219.1:p.Gln16= |