Linked Data
ClinVar Variation Id:
2207579
ClinVar RCV Id:
RCV004074230
dbSNP Id:
rs768061912
ExAC:
17:75187360 A / G
gnomAD v2:
17-75187360-A-G
gnomAD v3:
17-77191278-A-G
gnomAD v4:
17-77191278-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77191278A>G , CM000679.2:g.77191278A>G | GRCh38 |
| NC_000017.10:g.75187360A>G , CM000679.1:g.75187360A>G | GRCh37 |
| NC_000017.9:g.72698955A>G | NCBI36 |
| NG_050640.1:g.107636A>G | |
| NG_050640.2:g.107636A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436233.9:c.311A>G MANE Select | ENSP00000390392.3:p.Asn104Ser | |
| ENST00000392476.6:c.311A>G | ENSP00000376268.2:p.Asn104Ser | |
| ENST00000430767.8:c.311A>G | ENSP00000408169.3:p.Asn104Ser | |
| ENST00000431431.6:c.209A>G | ENSP00000389838.1:p.Asn70Ser | |
| ENST00000436233.8:c.311A>G | ENSP00000390392.3:p.Asn104Ser | |
| ENST00000443798.8:c.311A>G | ENSP00000406030.3:p.Asn104Ser | |
| ENST00000585618.5:c.311A>G | ENSP00000466581.1:p.Asn104Ser | |
| ENST00000586390.5:n.537A>G | ||
| ENST00000588616.6:c.209A>G | ENSP00000466137.2:p.Asn70Ser | |
| ENST00000589827.5:c.311A>G | ENSP00000464973.1:p.Asn104Ser | |
| ENST00000590483.1:c.239+9A>G | ENSP00000468727.1:n.239+9A>G | |
| ENST00000591437.5:c.209A>G | ENSP00000467934.1:p.Asn70Ser | |
| ENST00000591786.5:c.304A>G | ENSP00000468184.1:n.304A>G | |
| NM_001039573.2:c.311A>G | NP_001034662.2:p.Asn104Ser | |
| NM_001143998.1:c.311A>G | NP_001137470.1:p.Asn104Ser | |
| NM_001143999.1:c.311A>G | NP_001137471.1:p.Asn104Ser | |
| NM_001144001.1:c.209A>G | NP_001137473.1:p.Asn70Ser | |
| NM_001204408.1:c.311A>G | NP_001191337.1:p.Asn104Ser | |
| NM_001204410.1:c.311A>G | NP_001191339.1:p.Asn104Ser | |
| NM_003003.3:c.311A>G | NP_002994.3:p.Asn104Ser | |
| NM_001143998.2:c.311A>G MANE Select | NP_001137470.2:p.Asn104Ser | |
| NM_001039573.3:c.311A>G | NP_001034662.3:p.Asn104Ser | |
| NM_001143999.2:c.311A>G | NP_001137471.2:p.Asn104Ser | |
| NM_001144001.2:c.209A>G | NP_001137473.2:p.Asn70Ser | |
| NM_001204408.2:c.311A>G | NP_001191337.2:p.Asn104Ser | |
| NM_001204410.2:c.311A>G | NP_001191339.2:p.Asn104Ser | |
| NM_003003.4:c.311A>G | NP_002994.4:p.Asn104Ser |