Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5433689A>T , CM000679.2:g.5433689A>T | GRCh38 |
| NC_000017.10:g.5337009A>T , CM000679.1:g.5337009A>T | GRCh37 |
| NC_000017.9:g.5277733A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001212.4:c.556T>A MANE Select | NP_001203.1:p.Cys186Ser |
| ENST00000225698.8:c.556T>A MANE Select | ENSP00000225698.4:p.Cys186Ser |
| NM_001212.3:c.556T>A | NP_001203.1:p.Cys186Ser |
| ENST00000570805.1:c.244T>A | ENSP00000460638.1:p.Cys82Ser |
| ENST00000573204.1:n.422T>A | |
| ENST00000573421.1:n.165T>A | |
| ENST00000574444.5:c.244T>A | ENSP00000460308.1:p.Cys82Ser |