Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103656225T>C , CM000666.2:g.103656225T>C | GRCh38 |
| NC_000004.11:g.104577382T>C , CM000666.1:g.104577382T>C | GRCh37 |
| NC_000004.10:g.104796831T>C | NCBI36 |
| NG_023344.1:g.68592A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304883.3:c.857A>G MANE Select | ENSP00000303325.2:p.Lys286Arg | |
| ENST00000304883.2:c.857A>G | ENSP00000303325.2:p.Lys286Arg | |
| NM_001059.2:c.857A>G | NP_001050.1:p.Lys286Arg | |
| NM_001059.3:c.857A>G MANE Select | NP_001050.1:p.Lys286Arg |