Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6624138C= , CM000673.2:g.6624138C= | GRCh38 |
| NC_000011.9:g.6645369C= , CM000673.1:g.6645369C= | GRCh37 |
| NC_000011.8:g.6601945C= | NCBI36 |
| NG_008653.1:g.324G= | |
| NG_033858.1:g.36712G= | |
| NG_033858.2:g.36712G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299441.5:c.7538G= MANE Select | ENSP00000299441.3:p.Arg2513= | |
| ENST00000299441.4:c.7538G= | ENSP00000299441.3:p.Arg2513= | |
| NM_003737.3:c.7538G= | NP_003728.1:p.Arg2513= | |
| NM_003737.4:c.7538G= MANE Select | NP_003728.1:p.Arg2513= |