Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643752C= , CM000670.2:g.86643752C= | GRCh38 |
| NC_000008.10:g.87655980C= , CM000670.1:g.87655980C= | GRCh37 |
| NC_000008.9:g.87725096C= | NCBI36 |
| NG_016980.1:g.104924G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1177G= MANE Select | ENSP00000316605.5:p.Glu393= | |
| ENST00000681546.1:n.997G= | ||
| ENST00000681746.1:c.1177G= | ENSP00000505959.1:p.Glu393= | |
| ENST00000320005.5:c.1177G= | ENSP00000316605.5:p.Glu393= | |
| NM_019098.4:c.1177G= | NP_061971.3:p.Glu393= | |
| XM_011517138.1:c.763G= | XP_011515440.1:p.Glu255= | |
| XM_011517138.2:c.763G= | XP_011515440.1:p.Glu255= | |
| NM_019098.5:c.1177G= MANE Select | NP_061971.3:p.Glu393= |