Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4792979C>A , CM000669.2:g.4792979C>A | GRCh38 |
| NC_000007.13:g.4832610C>A , CM000669.1:g.4832610C>A | GRCh37 |
| NC_000007.12:g.4799136C>A | NCBI36 |
| NG_028111.1:g.22349C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014855.3:c.*1594C>A MANE Select | NP_055670.1:n.*1594C>A |
| ENST00000649063.2:c.*1594C>A MANE Select | ENSP00000497815.1:n.*1594C>A |
| NM_001364858.1:c.*1594C>A | NP_001351787.1:n.*1594C>A |
| NM_014855.2:c.*1594C>A | NP_055670.1:n.*1594C>A |
| NR_157345.1:n.4149C>A | |
| ENST00000496303.5:n.4327C>A | |
| ENST00000648925.1:c.*2421C>A | ENSP00000496830.1:n.*2421C>A |