Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763730G= , CM000674.2:g.57763730G= | GRCh38 |
| NC_000012.11:g.58157513G= , CM000674.1:g.58157513G= | GRCh37 |
| NC_000012.10:g.56443780G= | NCBI36 |
| NG_007076.1:g.8464C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1375C= | ENSP00000518840.1:p.Arg459= | |
| ENST00000713545.1:c.*299C= | ENSP00000518841.1:n.*299C= | |
| ENST00000228606.9:c.1294C= MANE Select | ENSP00000228606.4:p.Arg432= | |
| ENST00000228606.8:c.1294C= | ENSP00000228606.4:p.Arg432= | |
| ENST00000547344.5:n.1433C= | ||
| NM_000785.3:c.1294C= | NP_000776.1:p.Arg432= | |
| NM_000785.4:c.1294C= MANE Select | NP_000776.1:p.Arg432= |