Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225483T= , CM000673.2:g.5225483T= | GRCh38 |
| NC_000011.9:g.5246713T= , CM000673.1:g.5246713T= | GRCh37 |
| NC_000011.8:g.5203289T= | NCBI36 |
| NG_000007.3:g.72133A= | |
| NG_059281.1:g.6589A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*115A= | ENSP00000494175.1:n.*115A= | |
| ENST00000335295.4:c.*115A= MANE Select | ENSP00000333994.3:n.*115A= | |
| ENST00000633227.1:c.*375A= | ENSP00000488004.1:n.*375A= | |
| NM_000518.4:c.*115A= | NP_000509.1:n.*115A= | |
| NM_000518.5:c.*115A= MANE Select | NP_000509.1:n.*115A= |