Linked Data
PubMed:
PMID:27479843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307363G>A , CM000673.2:g.121307363G>A | GRCh38 |
| NC_000011.9:g.121178072G>A , CM000673.1:g.121178072G>A | GRCh37 |
| NC_000011.8:g.120683282G>A | NCBI36 |
| NG_009446.1:g.19685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.751G>A MANE Select | ENSP00000264027.4:p.Gly251Ser | |
| ENST00000264027.8:c.751G>A | ENSP00000264027.4:p.Gly251Ser | |
| ENST00000392789.2:c.751G>A | ENSP00000376539.2:p.Gly251Ser | |
| ENST00000527183.1:n.1044G>A | ||
| ENST00000534230.5:c.632-94G>A | ENSP00000432550.1:n.632-94G>A | |
| NM_001024956.2:c.751G>A | NP_001020127.1:p.Gly251Ser | |
| NM_006918.4:c.751G>A | NP_008849.2:p.Gly251Ser | |
| NM_006918.5:c.751G>A MANE Select | NP_008849.2:p.Gly251Ser | |
| NM_001024956.3:c.751G>A | NP_001020127.1:p.Gly251Ser |