Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96284121G>A , CM000670.2:g.96284121G>A | GRCh38 |
| NC_000008.10:g.97296349G>A , CM000670.1:g.97296349G>A | GRCh37 |
| NC_000008.9:g.97365525G>A | NCBI36 |
| NG_034054.1:g.27236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517309.6:c.284G>A MANE Select | ENSP00000430548.1:p.Arg95Gln | |
| ENST00000337004.8:c.271+10731G>A | ENSP00000337331.4:n.271+10731G>A | |
| ENST00000517309.5:c.284G>A | ENSP00000430548.1:p.Arg95Gln | |
| ENST00000517557.5:n.358G>A | ||
| ENST00000518776.1:n.180G>A | ||
| NM_001290225.1:c.3+10731G>A | NP_001277154.1:n.3+10731G>A | |
| NM_014754.2:c.284G>A | NP_055569.1:p.Arg95Gln | |
| NM_001290225.2:c.3+10731G>A | NP_001277154.1:n.3+10731G>A | |
| NM_014754.3:c.284G>A MANE Select | NP_055569.1:p.Arg95Gln |