Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43030050C>T , CM000677.2:g.43030050C>T | GRCh38 |
| NC_000015.9:g.43322248C>T , CM000677.1:g.43322248C>T | GRCh37 |
| NC_000015.8:g.41109540C>T | NCBI36 |
| NG_012182.1:g.81039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.2273G>A MANE Select | ENSP00000290650.4:p.Gly758Glu | |
| ENST00000290650.8:c.2273G>A | ENSP00000290650.4:p.Gly758Glu | |
| ENST00000546274.6:c.2273G>A | ENSP00000477932.1:p.Gly758Glu | |
| ENST00000569066.2:c.308G>A | ENSP00000456327.1:p.Gly103Glu | |
| NM_174916.2:c.2273G>A | NP_777576.1:p.Gly758Glu | |
| NM_174916.3:c.2273G>A MANE Select | NP_777576.1:p.Gly758Glu |