Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740587G>A , CM000685.2:g.153740587G>A | GRCh38 |
| NC_000023.10:g.153006041G>A , CM000685.1:g.153006041G>A | GRCh37 |
| NC_000023.9:g.152659235G>A | NCBI36 |
| NG_009022.2:g.20720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1648G>A MANE Select | ENSP00000218104.3:p.Val550Met | |
| ENST00000218104.5:c.1648G>A | ENSP00000218104.3:p.Val550Met | |
| ENST00000443684.2:n.651G>A | ||
| NM_000033.3:c.1648G>A | NP_000024.2:p.Val550Met | |
| XR_938507.1:n.2120G>A | ||
| XR_938507.2:n.2120G>A | ||
| NM_000033.4:c.1648G>A MANE Select | NP_000024.2:p.Val550Met |