Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154440070G>A , CM000685.2:g.154440070G>A | GRCh38 |
| NC_000023.10:g.153668417G>A , CM000685.1:g.153668417G>A | GRCh37 |
| NC_000023.9:g.153321611G>A | NCBI36 |
| NG_008954.1:g.8159G>A | |
| NG_013233.1:g.933G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001493.3:c.518G>A MANE Select | NP_001484.1:p.Arg173Gln |
| ENST00000447750.7:c.518G>A MANE Select | ENSP00000394071.2:p.Arg173Gln |
| NM_001493.2:c.518G>A | NP_001484.1:p.Arg173Gln |
| ENST00000434049.1:c.*162G>A | ENSP00000416195.1:n.*162G>A |
| ENST00000447750.6:c.518G>A | ENSP00000394071.2:p.Arg173Gln |
| ENST00000481304.5:n.584G>A | |
| ENST00000489589.1:n.78G>A | |
| ENST00000491154.1:n.990G>A |