Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6624138C>A , CM000673.2:g.6624138C>A | GRCh38 |
| NC_000011.9:g.6645369C>A , CM000673.1:g.6645369C>A | GRCh37 |
| NC_000011.8:g.6601945C>A | NCBI36 |
| NG_008653.1:g.324G>T | |
| NG_033858.1:g.36712G>T | |
| NG_033858.2:g.36712G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.7538G>T MANE Select | NP_003728.1:p.Arg2513Leu |
| ENST00000299441.5:c.7538G>T MANE Select | ENSP00000299441.3:p.Arg2513Leu |
| NM_003737.3:c.7538G>T | NP_003728.1:p.Arg2513Leu |
| ENST00000299441.4:c.7538G>T | ENSP00000299441.3:p.Arg2513Leu |