Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866624T>A , CM000679.2:g.40866624T>A | GRCh38 |
| NC_000017.10:g.39022876T>A , CM000679.1:g.39022876T>A | GRCh37 |
| NC_000017.9:g.36276402T>A | NCBI36 |
| NG_008077.1:g.5587A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.563A>T MANE Select | ENSP00000251643.4:p.Asn188Ile | |
| ENST00000647902.1:c.455A>T | ENSP00000497770.1:p.Asn152Ile | |
| ENST00000251643.4:c.563A>T | ENSP00000251643.4:p.Asn188Ile | |
| NM_000223.3:c.563A>T | NP_000214.1:p.Asn188Ile | |
| XR_934754.1:n.1500+15764T>A | ||
| XR_934754.2:n.2008+15764T>A | ||
| NM_000223.4:c.563A>T MANE Select | NP_000214.1:p.Asn188Ile |