Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472078T>A , CM000677.2:g.40472078T>A | GRCh38 |
| NC_000015.9:g.40764277T>A , CM000677.1:g.40764277T>A | GRCh37 |
| NC_000015.8:g.38551569T>A | NCBI36 |
| NG_017074.1:g.6118T>A , LRG_600:g.6118T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.865T>A MANE Select | NP_569735.1:p.Cys289Ser |
| ENST00000306243.7:c.865T>A MANE Select | ENSP00000307297.6:p.Cys289Ser |
| NM_130468.3:c.865T>A , LRG_600t1:c.865T>A | NP_569735.1:p.Cys289Ser |
| ENST00000306243.6:c.865T>A | ENSP00000307297.5:p.Cys289Ser |
| ENST00000559991.1:c.790T>A | ENSP00000453882.1:p.Cys264Ser |