Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100239438A>G , CM000676.2:g.100239438A>G | GRCh38 |
| NC_000014.8:g.100705775A>G , CM000676.1:g.100705775A>G | GRCh37 |
| NC_000014.7:g.99775528A>G | NCBI36 |
| NG_046908.1:g.5674A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.194A>G MANE Select | NP_003394.1:p.His65Arg |
| ENST00000262238.10:c.194A>G MANE Select | ENSP00000262238.4:p.His65Arg |
| NM_003403.4:c.194A>G | NP_003394.1:p.His65Arg |
| ENST00000262238.8:c.194A>G | ENSP00000262238.4:p.His65Arg |