Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675852A>G , CM000685.2:g.38675852A>G | GRCh38 |
| NC_000023.10:g.38535106A>G , CM000685.1:g.38535106A>G | GRCh37 |
| NC_000023.9:g.38420050A>G | NCBI36 |
| NG_009160.1:g.119376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.589A>G MANE Select | ENSP00000367743.2:p.Asn197Asp | |
| ENST00000286824.6:c.640A>G | ENSP00000286824.6:p.Asn214Asp | |
| ENST00000378482.6:c.589A>G | ENSP00000367743.2:p.Asn197Asp | |
| ENST00000419600.3:n.533A>G | ||
| ENST00000465127.1:c.679A>G | ENSP00000417050.1:p.Asn227Asp | |
| ENST00000471410.5:c.*615A>G | ENSP00000419290.1:n.*615A>G | |
| ENST00000475216.5:c.*582A>G | ENSP00000418586.1:n.*582A>G | |
| NM_004615.3:c.589A>G | NP_004606.2:p.Asn197Asp | |
| NM_004615.4:c.589A>G MANE Select | NP_004606.2:p.Asn197Asp |