Linked Data
ClinVar Variation Id:
162627
dbSNP Id:
rs199815268
ExAC:
3:20225453 T / C
gnomAD v2:
3-20225453-T-C
gnomAD v3:
3-20183961-T-C
gnomAD v4:
3-20183961-T-C
PubMed:
PMID:25282101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.20183961T>C , CM000665.2:g.20183961T>C | GRCh38 |
| NC_000003.11:g.20225453T>C , CM000665.1:g.20225453T>C | GRCh37 |
| NC_000003.10:g.20200457T>C | NCBI36 |
| NG_042062.1:g.7271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412997.6:c.67A>G (SGO1) MANE Select | ENSP00000410458.1:p.Lys23Glu | |
| ENST00000263753.8:c.67A>G (SGO1) | ENSP00000263753.4:p.Lys23Glu | |
| ENST00000306698.6:c.67A>G (SGO1) | ENSP00000306581.2:p.Lys23Glu | |
| ENST00000412997.5:c.67A>G (SGO1) | ENSP00000410458.1:p.Lys23Glu | |
| ENST00000417364.1:c.67A>G (SGO1) | ENSP00000394613.1:p.Lys23Glu | |
| ENST00000419233.6:c.67A>G (SGO1) | ENSP00000394625.2:p.Lys23Glu | |
| ENST00000421451.5:c.67A>G (SGO1) | ENSP00000414129.1:p.Lys23Glu | |
| ENST00000425061.5:c.67A>G (SGO1) | ENSP00000414960.1:p.Lys23Glu | |
| ENST00000437051.5:c.67A>G (SGO1) | ENSP00000389034.1:p.Lys23Glu | |
| ENST00000442720.5:c.67A>G (SGO1) | ENSP00000394957.1:p.Lys23Glu | |
| ENST00000443724.5:c.67A>G (SGO1) | ENSP00000413070.1:p.Lys23Glu | |
| ENST00000452020.5:c.67A>G (SGO1) | ENSP00000411200.1:p.Lys23Glu | |
| ENST00000456624.1:c.67A>G (SGO1) | ENSP00000397672.1:p.Lys23Glu | |
| NM_001012409.2:c.67A>G (SGO1) | NP_001012409.1:p.Lys23Glu | |
| NM_001012409.3:c.67A>G (SGO1) | NP_001012409.1:p.Lys23Glu | |
| NM_001012410.3:c.67A>G (SGO1) | NP_001012410.1:p.Lys23Glu | |
| NM_001012410.4:c.67A>G (SGO1) | NP_001012410.1:p.Lys23Glu | |
| NM_001012411.2:c.67A>G (SGO1) | NP_001012411.1:p.Lys23Glu | |
| NM_001012411.3:c.67A>G (SGO1) | NP_001012411.1:p.Lys23Glu | |
| NM_001012412.3:c.67A>G (SGO1) | NP_001012412.1:p.Lys23Glu | |
| NM_001012412.4:c.67A>G (SGO1) | NP_001012412.1:p.Lys23Glu | |
| NM_001012413.2:c.67A>G (SGO1) | NP_001012413.1:p.Lys23Glu | |
| NM_001012413.3:c.67A>G (SGO1) | NP_001012413.1:p.Lys23Glu | |
| NM_001199251.1:c.67A>G (SGO1) | NP_001186180.1:p.Lys23Glu | |
| NM_001199251.2:c.67A>G (SGO1) | NP_001186180.1:p.Lys23Glu | |
| NM_001199252.1:c.67A>G (SGO1) | NP_001186181.1:p.Lys23Glu | |
| NM_001199252.2:c.67A>G (SGO1) | NP_001186181.1:p.Lys23Glu | |
| NM_001199253.1:c.67A>G (SGO1) | NP_001186182.1:p.Lys23Glu | |
| NM_001199253.2:c.67A>G (SGO1) | NP_001186182.1:p.Lys23Glu | |
| NM_001199254.1:c.67A>G (SGO1) | NP_001186183.1:p.Lys23Glu | |
| NM_001199254.2:c.67A>G (SGO1) | NP_001186183.1:p.Lys23Glu | |
| NM_001199255.1:c.67A>G (SGO1) | NP_001186184.1:p.Lys23Glu | |
| NM_001199255.2:c.67A>G (SGO1) | NP_001186184.1:p.Lys23Glu | |
| NM_001199256.1:c.67A>G (SGO1) | NP_001186185.1:p.Lys23Glu | |
| NM_001199256.2:c.67A>G (SGO1) | NP_001186185.1:p.Lys23Glu | |
| NM_001199257.1:c.67A>G (SGO1) | NP_001186186.1:p.Lys23Glu | |
| NM_001199257.2:c.67A>G (SGO1) | NP_001186186.1:p.Lys23Glu | |
| NM_138484.3:c.67A>G (SGO1) | NP_612493.1:p.Lys23Glu | |
| NM_138484.4:c.67A>G (SGO1) | NP_612493.1:p.Lys23Glu | |
| NR_131179.1:n.249A>G (SGO1) | ||
| NR_131180.1:n.249A>G (SGO1) | ||
| NR_132785.1:n.359-2014T>C (SGO1-AS1) | ||
| XM_011533373.1:c.67A>G (SGO1) | XP_011531675.1:p.Lys23Glu | |
| XM_011533374.1:c.67A>G (SGO1) | XP_011531676.1:p.Lys23Glu | |
| XM_011533375.1:c.67A>G (SGO1) | XP_011531677.1:p.Lys23Glu | |
| XM_011533376.1:c.67A>G (SGO1) | XP_011531678.1:p.Lys23Glu | |
| XM_011533377.1:c.67A>G (SGO1) | XP_011531679.1:p.Lys23Glu | |
| XM_011533373.2:c.67A>G (SGO1) | XP_011531675.1:p.Lys23Glu | |
| XM_011533375.2:c.67A>G (SGO1) | XP_011531677.1:p.Lys23Glu | |
| XM_011533376.2:c.67A>G (SGO1) | XP_011531678.1:p.Lys23Glu | |
| XM_011533377.2:c.67A>G (SGO1) | XP_011531679.1:p.Lys23Glu | |
| NM_001199251.3:c.67A>G (SGO1) MANE Select | NP_001186180.1:p.Lys23Glu | |
| NM_001012410.5:c.67A>G (SGO1) | NP_001012410.1:p.Lys23Glu | |
| NM_001012412.5:c.67A>G (SGO1) | NP_001012412.1:p.Lys23Glu | |
| NM_001199252.3:c.67A>G (SGO1) | NP_001186181.1:p.Lys23Glu | |
| NM_001199254.3:c.67A>G (SGO1) | NP_001186183.1:p.Lys23Glu | |
| NM_001199256.3:c.67A>G (SGO1) | NP_001186185.1:p.Lys23Glu | |
| NM_001199257.3:c.67A>G (SGO1) | NP_001186186.1:p.Lys23Glu | |
| NM_138484.5:c.67A>G (SGO1) | NP_612493.1:p.Lys23Glu | |
| NM_001012409.4:c.67A>G (SGO1) | NP_001012409.1:p.Lys23Glu | |
| NM_001012411.4:c.67A>G (SGO1) | NP_001012411.1:p.Lys23Glu | |
| NM_001012413.4:c.67A>G (SGO1) | NP_001012413.1:p.Lys23Glu | |
| NM_001199253.3:c.67A>G (SGO1) | NP_001186182.1:p.Lys23Glu | |
| NM_001199255.3:c.67A>G (SGO1) | NP_001186184.1:p.Lys23Glu | |
| NR_131179.2:n.222A>G (SGO1) | ||
| NR_131180.2:n.222A>G (SGO1) |