Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4792241G>A , CM000669.2:g.4792241G>A | GRCh38 |
| NC_000007.13:g.4831872G>A , CM000669.1:g.4831872G>A | GRCh37 |
| NC_000007.12:g.4798398G>A | NCBI36 |
| NG_028111.1:g.21611G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014855.3:c.*856G>A MANE Select | NP_055670.1:n.*856G>A |
| ENST00000649063.2:c.*856G>A MANE Select | ENSP00000497815.1:n.*856G>A |
| NM_001364858.1:c.*856G>A | NP_001351787.1:n.*856G>A |
| NM_014855.2:c.*856G>A | NP_055670.1:n.*856G>A |
| NR_157345.1:n.3411G>A | |
| ENST00000496303.5:n.3589G>A | |
| ENST00000648925.1:c.*1683G>A | ENSP00000496830.1:n.*1683G>A |