Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136052974A>G , CM000667.2:g.136052974A>G | GRCh38 |
| NC_000005.9:g.135388663A>G , CM000667.1:g.135388663A>G | GRCh37 |
| NC_000005.8:g.135416562A>G | NCBI36 |
| NG_012646.1:g.29080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.981A>G MANE Select | ENSP00000416330.2:p.Val327= | |
| ENST00000442011.6:c.981A>G | ENSP00000416330.2:p.Val327= | |
| ENST00000506699.5:n.1498A>G | ||
| ENST00000507018.5:c.959A>G | ||
| ENST00000508767.5:c.240-44A>G | ||
| ENST00000514554.5:c.133A>G | ||
| ENST00000515433.1:n.3904A>G | ||
| ENST00000604555.5:c.213A>G | ENSP00000474155.1:p.Val71= | |
| NM_000358.2:c.981A>G | NP_000349.1:p.Val327= | |
| NM_000358.3:c.981A>G MANE Select | NP_000349.1:p.Val327= |