Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945924G>T , CM000679.2:g.4945924G>T | GRCh38 |
| NC_000017.10:g.4849219G>T , CM000679.1:g.4849219G>T | GRCh37 |
| NC_000017.9:g.4789964G>T | NCBI36 |
| NG_012063.2:g.4834G>T | |
| NG_032945.1:g.8163C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.399C>A MANE Select | ENSP00000225655.5:p.Ser133= | |
| ENST00000225655.5:c.399C>A | ENSP00000225655.5:p.Ser133= | |
| ENST00000574872.1:c.291C>A | ENSP00000465019.1:p.Ser97= | |
| NM_005022.3:c.399C>A | NP_005013.1:p.Ser133= | |
| XM_017024761.1:c.*483C>A | XP_016880250.1:n.*483C>A | |
| NM_001375991.1:c.*483C>A | NP_001362920.1:n.*483C>A | |
| NM_005022.4:c.399C>A MANE Select | NP_005013.1:p.Ser133= |