Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1437401C>A , CM000663.2:g.1437401C>A | GRCh38 |
| NC_000001.10:g.1372781C>A , CM000663.1:g.1372781C>A | GRCh37 |
| NC_000001.9:g.1362644C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022834.5:c.548C>A MANE Select | NP_073745.2:p.Ser183Ter |
| ENST00000476993.2:c.548C>A MANE Select | ENSP00000417185.1:p.Ser183Ter |
| NM_022834.4:c.548C>A | NP_073745.2:p.Ser183Ter |
| NM_199121.2:c.153C>A | NP_954572.2:p.Leu51= |
| NM_199121.3:c.153C>A | NP_954572.2:p.Leu51= |
| ENST00000338660.5:c.153C>A | ENSP00000423404.1:p.Leu51= |
| ENST00000476993.1:c.548C>A | ENSP00000417185.1:p.Ser183Ter |
| ENST00000495558.1:c.443C>A | ENSP00000463643.1:p.Ser148Ter |