Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10672840T>C , CM000682.2:g.10672840T>C | GRCh38 |
| NC_000020.10:g.10653488T>C , CM000682.1:g.10653488T>C | GRCh37 |
| NC_000020.9:g.10601488T>C | NCBI36 |
| NG_007496.1:g.6207A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.248A>G MANE Select | NP_000205.1:p.Gln83Arg |
| ENST00000254958.10:c.248A>G MANE Select | ENSP00000254958.4:p.Gln83Arg |
| NM_000214.2:c.248A>G | NP_000205.1:p.Gln83Arg |
| ENST00000254958.9:c.248A>G | ENSP00000254958.4:p.Gln83Arg |