Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183143277A= , CM000663.2:g.183143277A= | GRCh38 |
| NC_000001.10:g.183112412A= , CM000663.1:g.183112412A= | GRCh37 |
| NC_000001.9:g.181379035A= | NCBI36 |
| NG_011463.1:g.124818A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.*487A= MANE Select | NP_002284.3:n.*487A= |
| ENST00000258341.5:c.*487A= MANE Select | ENSP00000258341.3:n.*487A= |
| NM_002293.3:c.*487A= | NP_002284.3:n.*487A= |
| ENST00000258341.4:c.*487A= | ENSP00000258341.3:n.*487A= |