Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346847G>C , CM000673.2:g.66346847G>C | GRCh38 |
| NC_000011.9:g.66114318G>C , CM000673.1:g.66114318G>C | GRCh37 |
| NC_000011.8:g.65870894G>C | NCBI36 |
| NG_033202.1:g.5844C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006876.3:c.699C>G MANE Select | NP_006867.1:p.Ser233Arg |
| ENST00000311181.5:c.699C>G MANE Select | ENSP00000309096.4:p.Ser233Arg |
| NM_006876.2:c.699C>G | NP_006867.1:p.Ser233Arg |
| ENST00000311181.4:c.699C>G | ENSP00000309096.4:p.Ser233Arg |