Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80707912C>T , CM000674.2:g.80707912C>T | GRCh38 |
| NC_000012.11:g.81101691C>T , CM000674.1:g.81101691C>T | GRCh37 |
| NC_000012.10:g.79625822C>T | NCBI36 |
| NG_021392.1:g.5284C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002469.3:c.193C>T MANE Select | NP_002460.1:p.Pro65Ser |
| ENST00000228641.4:c.193C>T MANE Select | ENSP00000228641.3:p.Pro65Ser |
| NM_002469.2:c.193C>T | NP_002460.1:p.Pro65Ser |
| ENST00000228641.3:c.193C>T | ENSP00000228641.3:p.Pro65Ser |