Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293291G>A , CM000684.2:g.45293291G>A | GRCh38 |
| NC_000022.10:g.45689172G>A , CM000684.1:g.45689172G>A | GRCh37 |
| NC_000022.9:g.44067836G>A | NCBI36 |
| NG_016203.1:g.13305G>A | |
| NG_016203.2:g.13305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.682G>A MANE Select | ENSP00000216211.4:p.Gly228Ser | |
| ENST00000216211.8:c.682G>A | ENSP00000216211.4:p.Gly228Ser | |
| ENST00000396082.2:c.319G>A | ENSP00000379391.2:p.Gly107Ser | |
| NM_001167574.1:c.319G>A | NP_001161046.1:p.Gly107Ser | |
| NM_006953.3:c.682G>A | NP_008884.1:p.Gly228Ser | |
| XM_011530364.1:c.688G>A | XP_011528666.1:p.Gly230Ser | |
| XM_011530365.1:c.325G>A | XP_011528667.1:p.Gly109Ser | |
| NM_006953.4:c.682G>A MANE Select | NP_008884.1:p.Gly228Ser | |
| NM_001167574.2:c.319G>A | NP_001161046.1:p.Gly107Ser |