Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226795G>C , CM000673.2:g.5226795G>C | GRCh38 |
| NC_000011.9:g.5248025G>C , CM000673.1:g.5248025G>C | GRCh37 |
| NC_000011.8:g.5204601G>C | NCBI36 |
| NG_000007.3:g.70821C>G | |
| NG_059281.1:g.5277C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.97C>G MANE Select | NP_000509.1:p.Leu33Val |
| ENST00000335295.4:c.97C>G MANE Select | ENSP00000333994.3:p.Leu33Val |
| NM_000518.4:c.97C>G | NP_000509.1:p.Leu33Val |
| ENST00000380315.2:c.97C>G | ENSP00000369671.2:p.Leu33Val |
| ENST00000475226.1:n.29C>G | |
| ENST00000485743.1:n.148C>G | |
| ENST00000633227.1:c.81C>G | ENSP00000488004.1:p.Cys27Trp |
| ENST00000647020.1:c.97C>G | ENSP00000494175.1:p.Leu33Val |