Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38866850G>A , CM000684.2:g.38866850G>A | GRCh38 |
| NC_000022.10:g.39262855G>A , CM000684.1:g.39262855G>A | GRCh37 |
| NC_000022.9:g.37592801G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014292.5:c.598C>T MANE Select | NP_055107.3:p.Pro200Ser |
| ENST00000407418.8:c.598C>T MANE Select | ENSP00000384490.3:p.Pro200Ser |
| NM_001303494.1:c.544C>T | NP_001290423.1:p.Pro182Ser |
| NM_001303494.2:c.544C>T | NP_001290423.1:p.Pro182Ser |
| NM_014292.4:c.598C>T | NP_055107.3:p.Pro200Ser |
| ENST00000216083.6:c.544C>T | ENSP00000216083.6:p.Pro182Ser |
| ENST00000407418.7:c.598C>T | ENSP00000384490.3:p.Pro200Ser |
| XM_011530024.1:c.598C>T | XP_011528326.1:p.Pro200Ser |