Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225673G= , CM000673.2:g.5225673G= | GRCh38 |
| NC_000011.9:g.5246903G= , CM000673.1:g.5246903G= | GRCh37 |
| NC_000011.8:g.5203479G= | NCBI36 |
| NG_000007.3:g.71943C= | |
| NG_059281.1:g.6399C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.369C= MANE Select | NP_000509.1:p.Phe123= |
| ENST00000335295.4:c.369C= MANE Select | ENSP00000333994.3:p.Phe123= |
| NM_000518.4:c.369C= | NP_000509.1:p.Phe123= |
| ENST00000475226.1:n.301C= | |
| ENST00000633227.1:c.*185C= | ENSP00000488004.1:n.*185C= |
| ENST00000647020.1:c.369C= | ENSP00000494175.1:p.Phe123= |