Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812967A>G , CM000664.2:g.218812967A>G | GRCh38 |
| NC_000002.11:g.219677690A>G , CM000664.1:g.219677690A>G | GRCh37 |
| NC_000002.10:g.219385934A>G | NCBI36 |
| NG_007959.1:g.36219A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.888A>G MANE Select | ENSP00000258415.4:p.Gln296= | |
| ENST00000258415.8:c.888A>G | ENSP00000258415.4:p.Gln296= | |
| ENST00000411688.1:c.606A>G | ENSP00000392671.1:p.Gln202= | |
| ENST00000445971.1:c.*349A>G | ENSP00000404945.1:n.*349A>G | |
| ENST00000466602.1:n.1010A>G | ||
| ENST00000494263.5:n.1322A>G | ||
| NM_000784.3:c.888A>G | NP_000775.1:p.Gln296= | |
| XM_017003488.2:c.468A>G | XP_016858977.1:p.Gln156= | |
| NM_000784.4:c.888A>G MANE Select | NP_000775.1:p.Gln296= |