Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993239C>T , CM000678.2:g.30993239C>T | GRCh38 |
| NC_000016.9:g.31004560C>T , CM000678.1:g.31004560C>T | GRCh37 |
| NC_000016.8:g.30912061C>T | NCBI36 |
| NG_041829.1:g.22270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.677G>A MANE Select | ENSP00000215095.5:p.Gly226Glu | |
| ENST00000565419.2:c.677G>A | ENSP00000455899.1:p.Gly226Glu | |
| ENST00000215095.9:c.677G>A | ENSP00000215095.5:p.Gly226Glu | |
| ENST00000565419.1:c.677G>A | ENSP00000455899.1:p.Gly226Glu | |
| ENST00000569638.5:c.425G>A | ENSP00000457067.1:p.Gly142Glu | |
| NM_052874.4:c.677G>A | NP_443106.1:p.Gly226Glu | |
| XM_017022893.1:c.659G>A | XP_016878382.1:p.Gly220Glu | |
| NM_052874.5:c.677G>A MANE Select | NP_443106.1:p.Gly226Glu |