Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598610A>G , CM000680.2:g.31598610A>G | GRCh38 |
| NC_000018.9:g.29178573A>G , CM000680.1:g.29178573A>G | GRCh37 |
| NC_000018.8:g.27432571A>G | NCBI36 |
| NG_009490.1:g.11844A>G , LRG_416:g.11844A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.379A>G MANE Select | ENSP00000237014.4:p.Ile127Val | |
| ENST00000610404.5:c.283A>G | ENSP00000477599.2:p.Ile95Val | |
| ENST00000649620.1:c.379A>G | ENSP00000497927.1:p.Ile127Val | |
| ENST00000237014.7:c.379A>G | ENSP00000237014.3:p.Ile127Val | |
| ENST00000610404.4:c.493A>G | ENSP00000477599.1:p.Ile165Val | |
| ENST00000613781.1:c.375+4A>G | ENSP00000479174.1:n.375+4A>G | |
| NM_000371.3:c.379A>G , LRG_416t1:c.379A>G | NP_000362.1:p.Ile127Val | |
| NM_000371.4:c.379A>G MANE Select | NP_000362.1:p.Ile127Val |