Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598648G>A , CM000680.2:g.31598648G>A | GRCh38 |
| NC_000018.9:g.29178611G>A , CM000680.1:g.29178611G>A | GRCh37 |
| NC_000018.8:g.27432609G>A | NCBI36 |
| NG_009490.1:g.11882G>A , LRG_416:g.11882G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.417G>A MANE Select | NP_000362.1:p.Thr139= |
| ENST00000237014.8:c.417G>A MANE Select | ENSP00000237014.4:p.Thr139= |
| NM_000371.3:c.417G>A , LRG_416t1:c.417G>A | NP_000362.1:p.Thr139= |
| ENST00000237014.7:c.417G>A | ENSP00000237014.3:p.Thr139= |
| ENST00000610404.4:c.531G>A | ENSP00000477599.1:p.Thr177= |
| ENST00000610404.5:c.321G>A | ENSP00000477599.2:p.Thr107= |
| ENST00000613781.1:c.393G>A | ENSP00000479174.1:p.Thr131= |
| ENST00000649620.1:c.417G>A | ENSP00000497927.1:p.Thr139= |