Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94098874A>G , CM000663.2:g.94098874A>G | GRCh38 |
| NC_000001.10:g.94564430A>G , CM000663.1:g.94564430A>G | GRCh37 |
| NC_000001.9:g.94337018A>G | NCBI36 |
| NG_009073.1:g.27276T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.688T>C MANE Select | NP_000341.2:p.Cys230Arg |
| ENST00000370225.4:c.688T>C MANE Select | ENSP00000359245.3:p.Cys230Arg |
| NM_000350.2:c.688T>C | NP_000341.2:p.Cys230Arg |
| ENST00000370225.3:c.688T>C | ENSP00000359245.3:p.Cys230Arg |
| ENST00000649773.1:c.688T>C | ENSP00000496882.1:p.Cys230Arg |