Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30336665G>A , CM000673.2:g.30336665G>A | GRCh38 |
| NC_000011.9:g.30358212G>A , CM000673.1:g.30358212G>A | GRCh37 |
| NC_000011.8:g.30314788G>A | NCBI36 |
| NG_034234.1:g.18564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282032.4:c.653G>A MANE Select | ENSP00000282032.3:p.Gly218Glu | |
| ENST00000282032.3:c.653G>A | ENSP00000282032.3:p.Gly218Glu | |
| NM_152316.2:c.653G>A | NP_689529.1:p.Gly218Glu | |
| XM_005252792.2:c.317G>A | XP_005252849.1:p.Gly106Glu | |
| XM_005252792.4:c.317G>A | XP_005252849.1:p.Gly106Glu | |
| NM_152316.3:c.653G>A MANE Select | NP_689529.1:p.Gly218Glu |