Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20990477G>A , CM000684.2:g.20990477G>A | GRCh38 |
| NC_000022.10:g.21344766G>A , CM000684.1:g.21344766G>A | GRCh37 |
| NC_000022.9:g.19674766G>A | NCBI36 |
| NG_034193.1:g.13209G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.743G>A MANE Select | NP_006758.2:p.Gly248Glu |
| ENST00000646124.2:c.743G>A MANE Select | ENSP00000496779.1:p.Gly248Glu |
| NM_006767.3:c.743G>A | NP_006758.2:p.Gly248Glu |
| ENST00000215739.12:c.743G>A | ENSP00000215739.8:p.Gly248Glu |
| ENST00000414985.5:c.*309G>A | ENSP00000397247.1:n.*309G>A |
| ENST00000479606.5:n.889G>A | |
| ENST00000480895.1:n.439G>A | |
| ENST00000497716.5:n.126G>A | |
| ENST00000642151.1:c.574G>A | |
| ENST00000646506.1:n.322G>A | |
| ENST00000700578.1:c.743G>A | ENSP00000515073.1:p.Gly248Glu |