Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540066G>A , CM000664.2:g.232540066G>A | GRCh38 |
| NC_000002.11:g.233404776G>A , CM000664.1:g.233404776G>A | GRCh37 |
| NC_000002.10:g.233113020G>A | NCBI36 |
| NG_012954.1:g.5340G>A | |
| NG_012954.2:g.5375G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.130G>A MANE Select | NP_005190.4:p.Ala44Thr |
| ENST00000651502.1:c.130G>A MANE Select | ENSP00000498757.1:p.Ala44Thr |
| NM_005199.4:c.130G>A | NP_005190.4:p.Ala44Thr |
| ENST00000389492.3:c.130G>A | ENSP00000374143.3:p.Ala44Thr |
| ENST00000389494.7:c.130G>A | ENSP00000374145.3:p.Ala44Thr |
| ENST00000485094.1:n.151G>A |