Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6437609C>T , CM000673.2:g.6437609C>T | GRCh38 |
| NC_000011.9:g.6458839C>T , CM000673.1:g.6458839C>T | GRCh37 |
| NC_000011.8:g.6415415C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000613.3:c.534G>A MANE Select | NP_000604.1:p.Lys178= |
| ENST00000265983.8:c.534G>A MANE Select | ENSP00000265983.3:p.Lys178= |
| NM_000613.2:c.534G>A | NP_000604.1:p.Lys178= |
| ENST00000265983.7:c.534G>A | ENSP00000265983.3:p.Lys178= |
| ENST00000527556.5:n.100G>A | |
| ENST00000529775.1:n.501G>A | |
| ENST00000533561.5:n.317+2858G>A | |
| ENST00000534429.1:n.59G>A | |
| ENST00000615166.1:c.534G>A | ENSP00000479146.1:p.Lys178= |
| XM_005252883.1:c.534G>A | XP_005252940.1:p.Lys178= |