Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32068598T>C , CM000684.2:g.32068598T>C | GRCh38 |
| NC_000022.10:g.32464585T>C , CM000684.1:g.32464585T>C | GRCh37 |
| NC_000022.9:g.30794585T>C | NCBI36 |
| NG_017045.1:g.30567T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.475T>C MANE Select | NP_000334.1:p.Ser159Pro |
| ENST00000266088.9:c.475T>C MANE Select | ENSP00000266088.4:p.Ser159Pro |
| NM_000343.3:c.475T>C | NP_000334.1:p.Ser159Pro |
| NM_001256314.1:c.94T>C | NP_001243243.1:p.Ser32Pro |
| NM_001256314.2:c.94T>C | NP_001243243.1:p.Ser32Pro |
| ENST00000266088.8:c.475T>C | ENSP00000266088.4:p.Ser159Pro |
| ENST00000543737.2:c.94T>C | ENSP00000444898.1:p.Ser32Pro |
| XM_011530331.1:c.475T>C | XP_011528633.1:p.Ser159Pro |