Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226583G= , CM000673.2:g.5226583G= | GRCh38 |
| NC_000011.9:g.5247813G= , CM000673.1:g.5247813G= | GRCh37 |
| NC_000011.8:g.5204389G= | NCBI36 |
| NG_000007.3:g.71033C= | |
| NG_059281.1:g.5489C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.309C= | ENSP00000494175.1:p.Asn103= | |
| ENST00000335295.4:c.309C= MANE Select | ENSP00000333994.3:p.Asn103= | |
| ENST00000475226.1:n.241C= | ||
| ENST00000485743.1:n.360C= | ||
| ENST00000633227.1:c.*125C= | ENSP00000488004.1:n.*125C= | |
| NM_000518.4:c.309C= | NP_000509.1:p.Asn103= | |
| NM_000518.5:c.309C= MANE Select | NP_000509.1:p.Asn103= |