Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985926C>A , CM000678.2:g.1985926C>A | GRCh38 |
| NC_000016.9:g.2035927C>A , CM000678.1:g.2035927C>A | GRCh37 |
| NC_000016.8:g.1975928C>A | NCBI36 |
| NG_016288.1:g.6778C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.291C>A | ENSP00000455885.1:p.His97Gln | |
| ENST00000248114.7:c.516C>A MANE Select | ENSP00000248114.6:p.His172Gln | |
| ENST00000248114.6:c.516C>A | ENSP00000248114.6:p.His172Gln | |
| ENST00000565658.1:n.673C>A | ||
| ENST00000567719.1:c.291C>A | ENSP00000455885.1:p.His97Gln | |
| ENST00000569451.1:c.319C>A | ENSP00000456432.1:p.Pro107Thr | |
| NM_005262.2:c.516C>A | NP_005253.3:p.His172Gln | |
| NM_005262.3:c.516C>A MANE Select | NP_005253.3:p.His172Gln |