Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472079G>C , CM000677.2:g.40472079G>C | GRCh38 |
| NC_000015.9:g.40764278G>C , CM000677.1:g.40764278G>C | GRCh37 |
| NC_000015.8:g.38551570G>C | NCBI36 |
| NG_017074.1:g.6119G>C , LRG_600:g.6119G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.866G>C MANE Select | ENSP00000307297.6:p.Cys289Ser | |
| ENST00000306243.6:c.866G>C | ENSP00000307297.5:p.Cys289Ser | |
| ENST00000559991.1:c.791G>C | ENSP00000453882.1:p.Cys264Ser | |
| NM_130468.3:c.866G>C , LRG_600t1:c.866G>C | NP_569735.1:p.Cys289Ser | |
| NM_130468.4:c.866G>C MANE Select | NP_569735.1:p.Cys289Ser |