Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30336665G= , CM000673.2:g.30336665G= | GRCh38 |
| NC_000011.9:g.30358212G= , CM000673.1:g.30358212G= | GRCh37 |
| NC_000011.8:g.30314788G= | NCBI36 |
| NG_034234.1:g.18564G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152316.3:c.653G= MANE Select | NP_689529.1:p.Gly218= |
| ENST00000282032.4:c.653G= MANE Select | ENSP00000282032.3:p.Gly218= |
| NM_152316.2:c.653G= | NP_689529.1:p.Gly218= |
| ENST00000282032.3:c.653G= | ENSP00000282032.3:p.Gly218= |
| XM_005252792.2:c.317G= | XP_005252849.1:p.Gly106= |
| XM_005252792.4:c.317G= | XP_005252849.1:p.Gly106= |