Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866710T>G , CM000679.2:g.40866710T>G | GRCh38 |
| NC_000017.10:g.39022962T>G , CM000679.1:g.39022962T>G | GRCh37 |
| NC_000017.9:g.36276488T>G | NCBI36 |
| NG_008077.1:g.5501A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251643.5:c.477A>C MANE Select | ENSP00000251643.4:p.Glu159Asp | |
| ENST00000647902.1:c.369A>C | ENSP00000497770.1:p.Glu123Asp | |
| ENST00000251643.4:c.477A>C | ENSP00000251643.4:p.Glu159Asp | |
| NM_000223.3:c.477A>C | NP_000214.1:p.Glu159Asp | |
| XR_934754.1:n.1500+15850T>G | ||
| XR_934754.2:n.2008+15850T>G | ||
| NM_000223.4:c.477A>C MANE Select | NP_000214.1:p.Glu159Asp |