Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130382135G>A , CM000669.2:g.130382135G>A | GRCh38 |
| NC_000007.13:g.130021976G>A , CM000669.1:g.130021976G>A | GRCh37 |
| NC_000007.12:g.129809212G>A | NCBI36 |
| NG_042276.1:g.6765G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.409G>A MANE Select | NP_001859.1:p.Ala137Thr |
| ENST00000011292.8:c.409G>A MANE Select | ENSP00000011292.3:p.Ala137Thr |
| NM_001868.3:c.409G>A | NP_001859.1:p.Ala137Thr |
| ENST00000011292.7:c.409G>A | ENSP00000011292.3:p.Ala137Thr |
| ENST00000476062.5:c.145G>A | ENSP00000419408.1:p.Ala49Thr |
| ENST00000481342.5:c.145G>A | ENSP00000420218.1:p.Ala49Thr |
| ENST00000484324.1:c.145G>A | ENSP00000419497.1:p.Ala49Thr |
| ENST00000491460.5:n.371G>A | |
| ENST00000604896.5:c.141+989G>A | ENSP00000475021.1:n.141+989G>A |