Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226598G>C , CM000673.2:g.5226598G>C | GRCh38 |
| NC_000011.9:g.5247828G>C , CM000673.1:g.5247828G>C | GRCh37 |
| NC_000011.8:g.5204404G>C | NCBI36 |
| NG_000007.3:g.71018C>G | |
| NG_059281.1:g.5474C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.294C>G MANE Select | NP_000509.1:p.His98Gln |
| ENST00000335295.4:c.294C>G MANE Select | ENSP00000333994.3:p.His98Gln |
| NM_000518.4:c.294C>G | NP_000509.1:p.His98Gln |
| ENST00000475226.1:n.226C>G | |
| ENST00000485743.1:n.345C>G | |
| ENST00000633227.1:c.*110C>G | ENSP00000488004.1:n.*110C>G |
| ENST00000647020.1:c.294C>G | ENSP00000494175.1:p.His98Gln |