Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624226A>T , CM000679.2:g.41624226A>T | GRCh38 |
| NC_000017.10:g.39780478A>T , CM000679.1:g.39780478A>T | GRCh37 |
| NC_000017.9:g.37034004A>T | NCBI36 |
| NG_008625.1:g.5405T>A | |
| NG_009090.2:g.167487T>A , LRG_401:g.167487T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.284T>A MANE Select | ENSP00000308452.8:p.Leu95Gln | |
| ENST00000311208.12:c.284T>A | ENSP00000308452.8:p.Leu95Gln | |
| ENST00000463128.5:c.-312-20T>A | ENSP00000468672.1:n.-312-20T>A | |
| ENST00000491673.1:n.350T>A | ||
| ENST00000493253.5:n.71T>A | ||
| ENST00000540235.5:c.71+8T>A | ENSP00000441751.2:n.71+8T>A | |
| ENST00000577817.3:c.239T>A | ENSP00000467418.1:p.Leu80Gln | |
| NM_000422.2:c.284T>A | NP_000413.1:p.Leu95Gln | |
| NM_000422.3:c.284T>A MANE Select | NP_000413.1:p.Leu95Gln |