Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96115486G>A , CM000664.2:g.96115486G>A | GRCh38 |
| NC_000002.11:g.96781225G>A , CM000664.1:g.96781225G>A | GRCh37 |
| NC_000002.10:g.96144952G>A | NCBI36 |
| NG_032950.1:g.5664C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620793.2:c.664C>T MANE Select | ENSP00000480573.1:p.Arg222Ter | |
| ENST00000620793.1:c.664C>T | ENSP00000480573.1:p.Arg222Ter | |
| NM_000682.6:c.664C>T | NP_000673.2:p.Arg222Ter | |
| NM_000682.7:c.664C>T MANE Select | NP_000673.2:p.Arg222Ter |