Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5692880G>A , CM000664.2:g.5692880G>A | GRCh38 |
| NC_000002.11:g.5833012G>A , CM000664.1:g.5833012G>A | GRCh37 |
| NC_000002.10:g.5750463G>A | NCBI36 |
| NG_050751.1:g.5214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322002.5:c.159G>A MANE Select | ENSP00000322568.3:p.Met53Ile | |
| ENST00000322002.4:c.159G>A | ENSP00000322568.3:p.Met53Ile | |
| NM_003108.3:c.159G>A | NP_003099.1:p.Met53Ile | |
| NM_003108.4:c.159G>A MANE Select | NP_003099.1:p.Met53Ile |