Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780512T>G , CM000672.2:g.94780512T>G | GRCh38 |
| NC_000010.10:g.96540269T>G , CM000672.1:g.96540269T>G | GRCh37 |
| NC_000010.9:g.96530259T>G | NCBI36 |
| NG_008384.2:g.22807T>G | |
| NG_008384.3:g.22832T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.495T>G MANE Select | ENSP00000360372.3:p.Asp165Glu | |
| ENST00000645461.1:n.1548T>G | ||
| ENST00000371321.7:c.495T>G | ENSP00000360372.3:p.Asp165Glu | |
| ENST00000464755.1:c.1258T>G | ENSP00000483243.1:n.1258T>G | |
| NM_000769.2:c.495T>G | NP_000760.1:p.Asp165Glu | |
| NM_000769.4:c.495T>G MANE Select | NP_000760.1:p.Asp165Glu |