Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225688G>A , CM000673.2:g.5225688G>A | GRCh38 |
| NC_000011.9:g.5246918G>A , CM000673.1:g.5246918G>A | GRCh37 |
| NC_000011.8:g.5203494G>A | NCBI36 |
| NG_000007.3:g.71928C>T | |
| NG_059281.1:g.6384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.354C>T | ENSP00000494175.1:p.His118= | |
| ENST00000335295.4:c.354C>T MANE Select | ENSP00000333994.3:p.His118= | |
| ENST00000475226.1:n.286C>T | ||
| ENST00000633227.1:c.*170C>T | ENSP00000488004.1:n.*170C>T | |
| NM_000518.4:c.354C>T | NP_000509.1:p.His118= | |
| NM_000518.5:c.354C>T MANE Select | NP_000509.1:p.His118= |