Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94098874A>T , CM000663.2:g.94098874A>T | GRCh38 |
| NC_000001.10:g.94564430A>T , CM000663.1:g.94564430A>T | GRCh37 |
| NC_000001.9:g.94337018A>T | NCBI36 |
| NG_009073.1:g.27276T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.688T>A MANE Select | ENSP00000359245.3:p.Cys230Ser | |
| ENST00000649773.1:c.688T>A | ENSP00000496882.1:p.Cys230Ser | |
| ENST00000370225.3:c.688T>A | ENSP00000359245.3:p.Cys230Ser | |
| NM_000350.2:c.688T>A | NP_000341.2:p.Cys230Ser | |
| NM_000350.3:c.688T>A MANE Select | NP_000341.2:p.Cys230Ser |