Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624450C>A , CM000679.2:g.41624450C>A | GRCh38 |
| NC_000017.10:g.39780702C>A , CM000679.1:g.39780702C>A | GRCh37 |
| NC_000017.9:g.37034228C>A | NCBI36 |
| NG_008625.1:g.5181G>T | |
| NG_009090.2:g.167263G>T , LRG_401:g.167263G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.60G>T MANE Select | ENSP00000308452.8:p.Leu20= | |
| ENST00000311208.12:c.60G>T | ENSP00000308452.8:p.Leu20= | |
| ENST00000463128.5:c.-312-244G>T | ENSP00000468672.1:n.-312-244G>T | |
| ENST00000491673.1:n.126G>T | ||
| ENST00000540235.5:c.-146G>T | ENSP00000441751.2:n.-146G>T | |
| ENST00000577817.3:c.15G>T | ENSP00000467418.1:p.Leu5= | |
| NM_000422.2:c.60G>T | NP_000413.1:p.Leu20= | |
| NM_000422.3:c.60G>T MANE Select | NP_000413.1:p.Leu20= |