Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4793582A>G , CM000669.2:g.4793582A>G | GRCh38 |
| NC_000007.13:g.4833213A>G , CM000669.1:g.4833213A>G | GRCh37 |
| NC_000007.12:g.4799739A>G | NCBI36 |
| NG_028111.1:g.22952A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014855.3:c.*2197A>G MANE Select | NP_055670.1:n.*2197A>G |
| ENST00000649063.2:c.*2197A>G MANE Select | ENSP00000497815.1:n.*2197A>G |
| NM_001364858.1:c.*2197A>G | NP_001351787.1:n.*2197A>G |
| NM_014855.2:c.*2197A>G | NP_055670.1:n.*2197A>G |
| NR_157345.1:n.4752A>G | |
| ENST00000496303.5:n.4930A>G | |
| ENST00000648925.1:c.*3024A>G | ENSP00000496830.1:n.*3024A>G |