Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713176C>A , CM000672.2:g.87713176C>A | GRCh38 |
| NC_000010.10:g.89472933C>A , CM000672.1:g.89472933C>A | GRCh37 |
| NC_000010.9:g.89462913C>A | NCBI36 |
| NG_012150.1:g.58458C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.247C>A MANE Select | ENSP00000406157.1:p.His83Asn | |
| ENST00000361175.8:c.247C>A | ENSP00000354436.4:p.His83Asn | |
| ENST00000456849.1:c.247C>A | ENSP00000406157.1:p.His83Asn | |
| ENST00000465996.5:n.269C>A | ||
| ENST00000482258.1:n.290C>A | ||
| NM_001015880.1:c.247C>A | NP_001015880.1:p.His83Asn | |
| NM_004670.3:c.247C>A | NP_004661.2:p.His83Asn | |
| NM_001015880.2:c.247C>A MANE Select | NP_001015880.1:p.His83Asn | |
| NM_004670.4:c.247C>A | NP_004661.2:p.His83Asn |