Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67930032A>G , CM000678.2:g.67930032A>G | GRCh38 |
| NC_000016.9:g.67963935A>G , CM000678.1:g.67963935A>G | GRCh37 |
| NC_000016.8:g.66521436A>G | NCBI36 |
| NG_051639.1:g.6844T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574481.6:c.697T>C MANE Select | ENSP00000458537.2:p.Ser233Pro | |
| ENST00000571044.5:c.492T>C | ENSP00000461842.1:p.Ser164= | |
| ENST00000572144.5:n.1907T>C | ||
| ENST00000574481.5:c.697T>C | ENSP00000458537.2:p.Ser233Pro | |
| ENST00000575231.1:n.5267T>C | ||
| ENST00000576915.1:n.1027T>C | ||
| NM_001907.2:c.697T>C | NP_001898.1:p.Ser233Pro | |
| NM_001907.3:c.697T>C MANE Select | NP_001898.1:p.Ser233Pro |