Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12091566G>A , CM000672.2:g.12091566G>A | GRCh38 |
| NC_000010.10:g.12133565G>A , CM000672.1:g.12133565G>A | GRCh37 |
| NC_000010.9:g.12173571G>A | NCBI36 |
| NG_033248.1:g.27650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.1041G>A MANE Select | ENSP00000263035.4:p.Thr347= | |
| ENST00000263035.8:c.1041G>A | ENSP00000263035.4:p.Thr347= | |
| ENST00000415935.1:c.135G>A | ENSP00000400625.1:p.Thr45= | |
| ENST00000437298.1:c.846G>A | ENSP00000388163.1:p.Thr282= | |
| ENST00000465617.1:n.300-2507G>A | ||
| NM_018706.6:c.1041G>A | NP_061176.3:p.Thr347= | |
| NM_018706.7:c.1041G>A MANE Select | NP_061176.4:p.Thr347= |