Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585185A>G , CM000673.2:g.67585185A>G | GRCh38 |
| NC_000011.9:g.67352656A>G , CM000673.1:g.67352656A>G | GRCh37 |
| NC_000011.8:g.67109232A>G | NCBI36 |
| NG_012075.1:g.6591A>G , LRG_723:g.6591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.280A>G | ENSP00000381604.1:p.Asn94Asp | |
| ENST00000398606.10:c.280A>G MANE Select | ENSP00000381607.3:p.Asn94Asp | |
| ENST00000646888.1:c.173A>G | ENSP00000494477.1:p.Glu58Gly | |
| ENST00000398603.5:c.280A>G | ENSP00000381604.1:p.Asn94Asp | |
| ENST00000398606.7:c.280A>G | ENSP00000381607.3:p.Asn94Asp | |
| ENST00000467591.1:n.391A>G | ||
| ENST00000494593.1:n.1075A>G | ||
| ENST00000498765.5:c.343A>G | ||
| NM_000852.3:c.280A>G , LRG_723t1:c.280A>G | NP_000843.1:p.Asn94Asp | |
| NM_000852.4:c.280A>G MANE Select | NP_000843.1:p.Asn94Asp |