Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814064A>G , CM000664.2:g.218814064A>G | GRCh38 |
| NC_000002.11:g.219678787A>G , CM000664.1:g.219678787A>G | GRCh37 |
| NC_000002.10:g.219387031A>G | NCBI36 |
| NG_007959.1:g.37316A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1061A>G MANE Select | ENSP00000258415.4:p.Asp354Gly | |
| ENST00000258415.8:c.1061A>G | ENSP00000258415.4:p.Asp354Gly | |
| ENST00000445971.1:c.*522A>G | ENSP00000404945.1:n.*522A>G | |
| ENST00000466602.1:n.1183A>G | ||
| ENST00000494263.5:n.1495A>G | ||
| NM_000784.3:c.1061A>G | NP_000775.1:p.Asp354Gly | |
| XM_017003488.2:c.641A>G | XP_016858977.1:p.Asp214Gly | |
| NM_000784.4:c.1061A>G MANE Select | NP_000775.1:p.Asp354Gly |