Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624229C= , CM000679.2:g.41624229C= | GRCh38 |
| NC_000017.10:g.39780481C= , CM000679.1:g.39780481C= | GRCh37 |
| NC_000017.9:g.37034007C= | NCBI36 |
| NG_008625.1:g.5402G= | |
| NG_009090.2:g.167484G= , LRG_401:g.167484G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000422.3:c.281G= MANE Select | NP_000413.1:p.Arg94= |
| ENST00000311208.13:c.281G= MANE Select | ENSP00000308452.8:p.Arg94= |
| NM_000422.2:c.281G= | NP_000413.1:p.Arg94= |
| ENST00000311208.12:c.281G= | ENSP00000308452.8:p.Arg94= |
| ENST00000463128.5:c.-312-23G= | ENSP00000468672.1:n.-312-23G= |
| ENST00000491673.1:n.347G= | |
| ENST00000493253.5:n.68G= | |
| ENST00000540235.5:c.71+5G= | ENSP00000441751.2:n.71+5G= |
| ENST00000577817.3:c.236G= | ENSP00000467418.1:p.Arg79= |