Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96115486G>C , CM000664.2:g.96115486G>C | GRCh38 |
| NC_000002.11:g.96781225G>C , CM000664.1:g.96781225G>C | GRCh37 |
| NC_000002.10:g.96144952G>C | NCBI36 |
| NG_032950.1:g.5664C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000682.7:c.664C>G MANE Select | NP_000673.2:p.Arg222Gly |
| ENST00000620793.2:c.664C>G MANE Select | ENSP00000480573.1:p.Arg222Gly |
| NM_000682.6:c.664C>G | NP_000673.2:p.Arg222Gly |
| ENST00000620793.1:c.664C>G | ENSP00000480573.1:p.Arg222Gly |