Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598616G>A , CM000680.2:g.31598616G>A | GRCh38 |
| NC_000018.9:g.29178579G>A , CM000680.1:g.29178579G>A | GRCh37 |
| NC_000018.8:g.27432577G>A | NCBI36 |
| NG_009490.1:g.11850G>A , LRG_416:g.11850G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.385G>A MANE Select | NP_000362.1:p.Ala129Thr |
| ENST00000237014.8:c.385G>A MANE Select | ENSP00000237014.4:p.Ala129Thr |
| NM_000371.3:c.385G>A , LRG_416t1:c.385G>A | NP_000362.1:p.Ala129Thr |
| ENST00000237014.7:c.385G>A | ENSP00000237014.3:p.Ala129Thr |
| ENST00000610404.4:c.499G>A | ENSP00000477599.1:p.Ala167Thr |
| ENST00000610404.5:c.289G>A | ENSP00000477599.2:p.Ala97Thr |
| ENST00000613781.1:c.375+10G>A | ENSP00000479174.1:n.375+10G>A |
| ENST00000649620.1:c.385G>A | ENSP00000497927.1:p.Ala129Thr |