Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371972G>T , CM000680.2:g.60371972G>T | GRCh38 |
| NC_000018.9:g.58039205G>T , CM000680.1:g.58039205G>T | GRCh37 |
| NC_000018.8:g.56190185G>T | NCBI36 |
| NG_016441.1:g.5797C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.378C>A MANE Select | ENSP00000299766.3:p.Asp126Glu | |
| ENST00000299766.4:c.378C>A | ENSP00000299766.3:p.Asp126Glu | |
| NM_005912.2:c.378C>A | NP_005903.2:p.Asp126Glu | |
| NM_005912.3:c.378C>A MANE Select | NP_005903.2:p.Asp126Glu |