Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800210A>G , CM000666.2:g.24800210A>G | GRCh38 |
| NC_000004.11:g.24801832A>G , CM000666.1:g.24801832A>G | GRCh37 |
| NC_000004.10:g.24410930A>G | NCBI36 |
| NG_012213.1:g.9748A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.689A>G MANE Select | ENSP00000371554.3:p.Lys230Arg | |
| ENST00000382120.3:c.689A>G | ENSP00000371554.3:p.Lys230Arg | |
| NM_003102.2:c.689A>G | NP_003093.2:p.Lys230Arg | |
| XR_427488.1:n.879A>G | ||
| NM_003102.3:c.689A>G | NP_003093.2:p.Lys230Arg | |
| NM_003102.4:c.689A>G MANE Select | NP_003093.2:p.Lys230Arg |