Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5693315C>A , CM000664.2:g.5693315C>A | GRCh38 |
| NC_000002.11:g.5833447C>A , CM000664.1:g.5833447C>A | GRCh37 |
| NC_000002.10:g.5750898C>A | NCBI36 |
| NG_050751.1:g.5649C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322002.5:c.594C>A MANE Select | ENSP00000322568.3:p.Tyr198Ter | |
| ENST00000322002.4:c.594C>A | ENSP00000322568.3:p.Tyr198Ter | |
| NM_003108.3:c.594C>A | NP_003099.1:p.Tyr198Ter | |
| NM_003108.4:c.594C>A MANE Select | NP_003099.1:p.Tyr198Ter |