Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226853C= , CM000673.2:g.5226853C= | GRCh38 |
| NC_000011.9:g.5248083C= , CM000673.1:g.5248083C= | GRCh37 |
| NC_000011.8:g.5204659C= | NCBI36 |
| NG_000007.3:g.70763G= | |
| NG_059281.1:g.5219G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.93-54G= | ENSP00000494175.1:n.93-54G= | |
| ENST00000335295.4:c.93-54G= MANE Select | ENSP00000333994.3:n.93-54G= | |
| ENST00000380315.2:c.93-54G= | ENSP00000369671.2:n.93-54G= | |
| ENST00000485743.1:n.144-54G= | ||
| ENST00000633227.1:c.77-54G= | ENSP00000488004.1:n.77-54G= | |
| NM_000518.4:c.93-54G= | NP_000509.1:n.93-54G= | |
| NM_000518.5:c.93-54G= MANE Select | NP_000509.1:n.93-54G= |