Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293256G>T , CM000684.2:g.45293256G>T | GRCh38 |
| NC_000022.10:g.45689137G>T , CM000684.1:g.45689137G>T | GRCh37 |
| NC_000022.9:g.44067801G>T | NCBI36 |
| NG_016203.1:g.13270G>T | |
| NG_016203.2:g.13270G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.647G>T MANE Select | ENSP00000216211.4:p.Gly216Val | |
| ENST00000216211.8:c.647G>T | ENSP00000216211.4:p.Gly216Val | |
| ENST00000396082.2:c.284G>T | ENSP00000379391.2:p.Gly95Val | |
| NM_001167574.1:c.284G>T | NP_001161046.1:p.Gly95Val | |
| NM_006953.3:c.647G>T | NP_008884.1:p.Gly216Val | |
| XM_011530364.1:c.653G>T | XP_011528666.1:p.Gly218Val | |
| XM_011530365.1:c.290G>T | XP_011528667.1:p.Gly97Val | |
| NM_006953.4:c.647G>T MANE Select | NP_008884.1:p.Gly216Val | |
| NM_001167574.2:c.284G>T | NP_001161046.1:p.Gly95Val |