Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70785458C>T , CM000664.2:g.70785458C>T | GRCh38 |
| NC_000002.11:g.71012590C>T , CM000664.1:g.71012590C>T | GRCh37 |
| NC_000002.10:g.70866098C>T | NCBI36 |
| NG_013044.1:g.10186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332372.6:c.566G>A MANE Select | ENSP00000333097.6:p.Ser189Asn | |
| NM_001004311.3:c.566G>A MANE Select | NP_001004311.2:p.Ser189Asn |