Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225648G>C , CM000673.2:g.5225648G>C | GRCh38 |
| NC_000011.9:g.5246878G>C , CM000673.1:g.5246878G>C | GRCh37 |
| NC_000011.8:g.5203454G>C | NCBI36 |
| NG_000007.3:g.71968C>G | |
| NG_059281.1:g.6424C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.394C>G | ENSP00000494175.1:p.Gln132Glu | |
| ENST00000335295.4:c.394C>G MANE Select | ENSP00000333994.3:p.Gln132Glu | |
| ENST00000633227.1:c.*210C>G | ENSP00000488004.1:n.*210C>G | |
| NM_000518.4:c.394C>G | NP_000509.1:p.Gln132Glu | |
| NM_000518.5:c.394C>G MANE Select | NP_000509.1:p.Gln132Glu |