Linked Data
ClinVar Variation Id:
9178
ClinVar RCV Id:
RCV000009756
dbSNP Id:
rs104893932
PubMed:
PMID:15580564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70946126A>G , CM000667.2:g.70946126A>G | GRCh38 |
| NC_000005.9:g.70241953A>G , CM000667.1:g.70241953A>G | GRCh37 |
| NC_000005.8:g.70277709A>G | NCBI36 |
| NG_008691.1:g.26186A>G , LRG_676:g.26186A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.784A>G MANE Select | ENSP00000370083.4:p.Ser262Gly | |
| ENST00000351205.8:c.784A>G | ENSP00000305857.5:p.Ser262Gly | |
| ENST00000380707.8:c.784A>G | ENSP00000370083.4:p.Ser262Gly | |
| ENST00000503079.6:c.688A>G | ENSP00000428128.1:p.Ser230Gly | |
| ENST00000506163.5:c.784A>G | ENSP00000424926.1:p.Ser262Gly | |
| ENST00000506239.6:c.784A>G | ENSP00000422679.2:p.Ser262Gly | |
| ENST00000510679.1:n.38A>G | ||
| ENST00000513228.1:n.351A>G | ||
| ENST00000514951.5:c.583A>G | ENSP00000423298.1:p.Ser195Gly | |
| ENST00000518504.5:n.301A>G | ||
| ENST00000625245.2:c.784A>G | ENSP00000486539.1:p.Ser262Gly | |
| NM_000344.3:c.784A>G , LRG_676t1:c.784A>G | NP_000335.1:p.Ser262Gly | |
| NM_001297715.1:c.784A>G | NP_001284644.1:p.Ser262Gly | |
| NM_022874.2:c.688A>G | NP_075012.1:p.Ser230Gly | |
| XM_011543596.1:c.784A>G | XP_011541898.1:p.Ser262Gly | |
| XM_011543597.1:c.583A>G | XP_011541899.1:p.Ser195Gly | |
| XM_011543598.1:c.487A>G | XP_011541900.1:p.Ser163Gly | |
| XM_011543598.3:c.487A>G | XP_011541900.1:p.Ser163Gly | |
| XM_017009786.1:c.688A>G | XP_016865275.1:p.Ser230Gly | |
| NM_000344.4:c.784A>G MANE Select | NP_000335.1:p.Ser262Gly |