Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454520G>C , CM000679.2:g.7454520G>C | GRCh38 |
| NC_000017.10:g.7357839G>C , CM000679.1:g.7357839G>C | GRCh37 |
| NC_000017.9:g.7298563G>C | NCBI36 |
| NG_008026.1:g.14434G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044G>C MANE Select | ENSP00000304290.2:p.Gln348His | |
| ENST00000306071.6:c.1044G>C | ENSP00000304290.2:p.Gln348His | |
| ENST00000536404.6:c.828G>C | ENSP00000439209.2:p.Gln276His | |
| ENST00000570557.5:c.707G>C | ||
| ENST00000573209.1:n.1988G>C | ||
| ENST00000576360.1:c.681G>C | ENSP00000459092.1:p.Gln227His | |
| NM_000747.2:c.1044G>C | NP_000738.2:p.Gln348His | |
| NM_000747.3:c.1044G>C MANE Select | NP_000738.2:p.Gln348His |