Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161417092A>G , CM000664.2:g.161417092A>G | GRCh38 |
| NC_000002.11:g.162273603A>G , CM000664.1:g.162273603A>G | GRCh37 |
| NC_000002.10:g.161981849A>G | NCBI36 |
| NG_046904.1:g.5984A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.682A>G MANE Select | NP_006584.1:p.Lys228Glu |
| ENST00000389554.8:c.682A>G MANE Select | ENSP00000374205.3:p.Lys228Glu |
| NM_006593.2:c.682A>G | NP_006584.1:p.Lys228Glu |
| NM_006593.3:c.682A>G | NP_006584.1:p.Lys228Glu |
| ENST00000389554.7:c.682A>G | ENSP00000374205.3:p.Lys228Glu |
| ENST00000463544.1:n.762A>G |