Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99986138G= , CM000675.2:g.99986138G= | GRCh38 |
| NC_000013.10:g.100638392G= , CM000675.1:g.100638392G= | GRCh37 |
| NC_000013.9:g.99436393G= | NCBI36 |
| NG_007085.2:g.9074G= | |
| NG_007085.3:g.9383G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007129.5:c.*456G= MANE Select | NP_009060.2:n.*456G= |
| ENST00000376335.8:c.*456G= MANE Select | ENSP00000365514.3:n.*456G= |
| NM_007129.3:c.*456G= | NP_009060.2:n.*456G= |
| NM_007129.4:c.*456G= | NP_009060.2:n.*456G= |
| ENST00000376335.7:c.*456G= | ENSP00000365514.3:n.*456G= |