Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455360C>A , CM000679.2:g.7455360C>A | GRCh38 |
| NC_000017.10:g.7358679C>A , CM000679.1:g.7358679C>A | GRCh37 |
| NC_000017.9:g.7299403C>A | NCBI36 |
| NG_008026.1:g.15274C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1121C>A MANE Select | ENSP00000304290.2:p.Pro374His | |
| ENST00000306071.6:c.1121C>A | ENSP00000304290.2:p.Pro374His | |
| ENST00000536404.6:c.905C>A | ENSP00000439209.2:p.Pro302His | |
| ENST00000570557.5:c.784C>A | ||
| ENST00000573209.1:n.2065C>A | ||
| ENST00000576360.1:c.758C>A | ENSP00000459092.1:p.Pro253His | |
| NM_000747.2:c.1121C>A | NP_000738.2:p.Pro374His | |
| NM_000747.3:c.1121C>A MANE Select | NP_000738.2:p.Pro374His |