Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5433688C>G , CM000679.2:g.5433688C>G | GRCh38 |
| NC_000017.10:g.5337008C>G , CM000679.1:g.5337008C>G | GRCh37 |
| NC_000017.9:g.5277732C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001212.4:c.557G>C MANE Select | NP_001203.1:p.Cys186Ser |
| ENST00000225698.8:c.557G>C MANE Select | ENSP00000225698.4:p.Cys186Ser |
| NM_001212.3:c.557G>C | NP_001203.1:p.Cys186Ser |
| ENST00000570805.1:c.245G>C | ENSP00000460638.1:p.Cys82Ser |
| ENST00000573204.1:n.423G>C | |
| ENST00000573421.1:n.166G>C | |
| ENST00000574444.5:c.245G>C | ENSP00000460308.1:p.Cys82Ser |