Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624229C>A , CM000679.2:g.41624229C>A | GRCh38 |
| NC_000017.10:g.39780481C>A , CM000679.1:g.39780481C>A | GRCh37 |
| NC_000017.9:g.37034007C>A | NCBI36 |
| NG_008625.1:g.5402G>T | |
| NG_009090.2:g.167484G>T , LRG_401:g.167484G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000422.3:c.281G>T MANE Select | NP_000413.1:p.Arg94Leu |
| ENST00000311208.13:c.281G>T MANE Select | ENSP00000308452.8:p.Arg94Leu |
| NM_000422.2:c.281G>T | NP_000413.1:p.Arg94Leu |
| ENST00000311208.12:c.281G>T | ENSP00000308452.8:p.Arg94Leu |
| ENST00000463128.5:c.-312-23G>T | ENSP00000468672.1:n.-312-23G>T |
| ENST00000491673.1:n.347G>T | |
| ENST00000493253.5:n.68G>T | |
| ENST00000540235.5:c.71+5G>T | ENSP00000441751.2:n.71+5G>T |
| ENST00000577817.3:c.236G>T | ENSP00000467418.1:p.Arg79Leu |