Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226682A= , CM000673.2:g.5226682A= | GRCh38 |
| NC_000011.9:g.5247912A= , CM000673.1:g.5247912A= | GRCh37 |
| NC_000011.8:g.5204488A= | NCBI36 |
| NG_000007.3:g.70934T= | |
| NG_059281.1:g.5390T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.210T= | ENSP00000494175.1:p.Gly70= | |
| ENST00000335295.4:c.210T= MANE Select | ENSP00000333994.3:p.Gly70= | |
| ENST00000380315.2:c.210T= | ENSP00000369671.2:p.Gly70= | |
| ENST00000475226.1:n.142T= | ||
| ENST00000485743.1:n.261T= | ||
| ENST00000633227.1:c.*26T= | ENSP00000488004.1:n.*26T= | |
| NM_000518.4:c.210T= | NP_000509.1:p.Gly70= | |
| NM_000518.5:c.210T= MANE Select | NP_000509.1:p.Gly70= |