Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226662G= , CM000673.2:g.5226662G= | GRCh38 |
| NC_000011.9:g.5247892G= , CM000673.1:g.5247892G= | GRCh37 |
| NC_000011.8:g.5204468G= | NCBI36 |
| NG_000007.3:g.70954C= | |
| NG_059281.1:g.5410C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.230C= MANE Select | NP_000509.1:p.Ala77= |
| ENST00000335295.4:c.230C= MANE Select | ENSP00000333994.3:p.Ala77= |
| NM_000518.4:c.230C= | NP_000509.1:p.Ala77= |
| ENST00000380315.2:c.230C= | ENSP00000369671.2:p.Ala77= |
| ENST00000475226.1:n.162C= | |
| ENST00000485743.1:n.281C= | |
| ENST00000633227.1:c.*46C= | ENSP00000488004.1:n.*46C= |
| ENST00000647020.1:c.230C= | ENSP00000494175.1:p.Ala77= |