Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624250G= , CM000679.2:g.41624250G= | GRCh38 |
| NC_000017.10:g.39780502G= , CM000679.1:g.39780502G= | GRCh37 |
| NC_000017.9:g.37034028G= | NCBI36 |
| NG_008625.1:g.5381C= | |
| NG_009090.2:g.167463C= , LRG_401:g.167463C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.260C= MANE Select | ENSP00000308452.8:p.Thr87= | |
| ENST00000311208.12:c.260C= | ENSP00000308452.8:p.Thr87= | |
| ENST00000463128.5:c.-312-44C= | ENSP00000468672.1:n.-312-44C= | |
| ENST00000491673.1:n.326C= | ||
| ENST00000493253.5:n.47C= | ||
| ENST00000540235.5:c.55C= | ENSP00000441751.2:p.Pro19= | |
| ENST00000577817.3:c.215C= | ENSP00000467418.1:p.Thr72= | |
| NM_000422.2:c.260C= | NP_000413.1:p.Thr87= | |
| NM_000422.3:c.260C= MANE Select | NP_000413.1:p.Thr87= |