Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135892476G>C , CM000667.2:g.135892476G>C | GRCh38 |
| NC_000005.9:g.135228165G>C , CM000667.1:g.135228165G>C | GRCh37 |
| NC_000005.8:g.135256064G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000590.2:c.350C>G MANE Select | NP_000581.1:p.Thr117Arg |
| ENST00000274520.2:c.350C>G MANE Select | ENSP00000274520.1:p.Thr117Arg |
| NM_000590.1:c.350C>G | NP_000581.1:p.Thr117Arg |
| ENST00000274520.1:c.350C>G | ENSP00000274520.1:p.Thr117Arg |