Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20993998G>A , CM000684.2:g.20993998G>A | GRCh38 |
| NC_000022.10:g.21348287G>A , CM000684.1:g.21348287G>A | GRCh37 |
| NC_000022.9:g.19678287G>A | NCBI36 |
| NG_034193.1:g.16730G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1428G>A MANE Select | NP_006758.2:p.Gln476= |
| ENST00000646124.2:c.1428G>A MANE Select | ENSP00000496779.1:p.Gln476= |
| NM_006767.3:c.1428G>A | NP_006758.2:p.Gln476= |
| ENST00000215739.12:c.1428G>A | ENSP00000215739.8:p.Gln476= |
| ENST00000479606.5:n.1574G>A | |
| ENST00000492480.1:n.477G>A | |
| ENST00000495142.6:n.773G>A | |
| ENST00000642151.1:c.1259G>A | |
| ENST00000643578.1:n.1450G>A | |
| ENST00000643710.1:n.289G>A | |
| ENST00000646506.1:n.1007G>A | |
| ENST00000700578.1:c.1428G>A | ENSP00000515073.1:p.Gln476= |