Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225467C= , CM000673.2:g.5225467C= | GRCh38 |
| NC_000011.9:g.5246697C= , CM000673.1:g.5246697C= | GRCh37 |
| NC_000011.8:g.5203273C= | NCBI36 |
| NG_000007.3:g.72149G= | |
| NG_059281.1:g.6605G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*131G= | ENSP00000494175.1:n.*131G= | |
| ENST00000335295.4:c.*131G= MANE Select | ENSP00000333994.3:n.*131G= | |
| ENST00000633227.1:c.*391G= | ENSP00000488004.1:n.*391G= | |
| NM_000518.4:c.*131G= | NP_000509.1:n.*131G= | |
| NM_000518.5:c.*131G= MANE Select | NP_000509.1:n.*131G= |