Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991944G>A , CM000675.2:g.76991944G>A | GRCh38 |
| NC_000013.10:g.77566079G>A , CM000675.1:g.77566079G>A | GRCh37 |
| NC_000013.9:g.76464080G>A | NCBI36 |
| NG_009064.1:g.5021G>A , LRG_692:g.5021G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006493.2:c.-8G>A , LRG_692t1:c.-8G>A | NP_006484.1:n.-8G>A |
| ENST00000377453.7:c.-8G>A | ENSP00000366673.3:n.-8G>A |
| ENST00000636183.2:c.-155G>A | ENSP00000490181.2:n.-155G>A |
| XM_011534917.1:c.-8G>A | XP_011533219.1:n.-8G>A |