Linked Data
ClinVar Variation Id:
196249
dbSNP Id:
rs142894102
ExAC:
1:40557750 T / C
gnomAD v2:
1-40557750-T-C
gnomAD v3:
1-40092078-T-C
gnomAD v4:
1-40092078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092078T>C , CM000663.2:g.40092078T>C | GRCh38 |
| NC_000001.10:g.40557750T>C , CM000663.1:g.40557750T>C | GRCh37 |
| NC_000001.9:g.40330337T>C | NCBI36 |
| NG_009192.1:g.10393A>G , LRG_690:g.10393A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*165A>G | ENSP00000361865.5:n.*165A>G | |
| ENST00000433473.8:c.326A>G | ENSP00000394863.4:p.Asn109Ser | |
| ENST00000439754.6:c.329A>G | ENSP00000403207.2:p.Asn110Ser | |
| ENST00000449045.7:c.125-2566A>G | ENSP00000392293.2:n.125-2566A>G | |
| ENST00000526547.2:c.609A>G | ||
| ENST00000527311.7:c.234+320A>G | ENSP00000436695.3:n.234+320A>G | |
| ENST00000530704.6:c.329A>G | ENSP00000431655.1:p.Asn110Ser | |
| ENST00000641083.1:c.307A>G | ||
| ENST00000641236.1:n.566A>G | ||
| ENST00000641319.1:c.329A>G | ENSP00000493128.1:p.Asn110Ser | |
| ENST00000641471.1:c.416A>G | ENSP00000493146.1:p.Asn139Ser | |
| ENST00000641548.1:c.*181A>G | ENSP00000492984.1:n.*181A>G | |
| ENST00000641691.1:c.*181A>G | ENSP00000492910.1:n.*181A>G | |
| ENST00000641924.1:c.124+5037A>G | ENSP00000493063.1:n.124+5037A>G | |
| ENST00000642050.2:c.329A>G MANE Select | ENSP00000493153.1:p.Asn110Ser | |
| ENST00000372779.8:c.416A>G | ENSP00000361865.4:p.Asn139Ser | |
| ENST00000433473.7:c.329A>G | ENSP00000394863.3:p.Asn110Ser | |
| ENST00000439754.5:c.14A>G | ENSP00000403207.1:p.Asn5Ser | |
| ENST00000449045.6:c.125-2566A>G | ENSP00000392293.2:n.125-2566A>G | |
| ENST00000526547.1:c.179A>G | ENSP00000436481.1:p.Asn60Ser | |
| ENST00000527311.6:c.125-21A>G | ENSP00000436695.2:n.125-21A>G | |
| ENST00000529905.5:c.329A>G | ENSP00000432053.1:p.Asn110Ser | |
| ENST00000530704.5:c.329A>G | ENSP00000431655.1:p.Asn110Ser | |
| NM_000310.3:c.329A>G , LRG_690t1:c.329A>G | NP_000301.1:p.Asn110Ser | |
| NM_001142604.1:c.125-2566A>G | NP_001136076.1:n.125-2566A>G | |
| XM_005271008.1:c.329A>G | XP_005271065.1:p.Asn110Ser | |
| NM_001363695.1:c.329A>G | NP_001350624.1:p.Asn110Ser | |
| NM_000310.4:c.329A>G MANE Select | NP_000301.1:p.Asn110Ser | |
| NM_001142604.2:c.125-2566A>G | NP_001136076.1:n.125-2566A>G | |
| NM_001363695.2:c.329A>G | NP_001350624.1:p.Asn110Ser |