Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177003A>G , CM000678.2:g.177003A>G | GRCh38 |
| NC_000016.9:g.227002A>G , CM000678.1:g.227002A>G | GRCh37 |
| NC_000016.8:g.167002A>G | NCBI36 |
| NG_000006.1:g.37866A>G | |
| NG_059186.1:g.5353A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.170A>G MANE Select | NP_000549.1:p.Lys57Arg |
| ENST00000320868.9:c.170A>G MANE Select | ENSP00000322421.5:p.Lys57Arg |
| NM_000558.4:c.170A>G | NP_000549.1:p.Lys57Arg |
| ENST00000397797.1:c.74A>G | ENSP00000380899.1:p.Lys25Arg |
| ENST00000472694.1:n.306A>G | |
| ENST00000487791.1:n.139A>G |