Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991996G>T , CM000675.2:g.76991996G>T | GRCh38 |
| NC_000013.10:g.77566131G>T , CM000675.1:g.77566131G>T | GRCh37 |
| NC_000013.9:g.76464132G>T | NCBI36 |
| NG_009064.1:g.5073G>T , LRG_692:g.5073G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-103G>T | ENSP00000490181.2:n.-103G>T | |
| ENST00000377453.7:c.45G>T | ENSP00000366673.3:p.Ala15= | |
| NM_006493.2:c.45G>T , LRG_692t1:c.45G>T | NP_006484.1:p.Ala15= | |
| XM_011534917.1:c.45G>T | XP_011533219.1:p.Ala15= |