Linked Data
ClinVar Variation Id:
220743
dbSNP Id:
rs151286353
ExAC:
5:112174614 A / G
gnomAD v2:
5-112174614-A-G
gnomAD v3:
5-112838917-A-G
gnomAD v4:
5-112838917-A-G
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838917A>G , CM000667.2:g.112838917A>G | GRCh38 |
| NC_000005.9:g.112174614A>G , CM000667.1:g.112174614A>G | GRCh37 |
| NC_000005.8:g.112202513A>G | NCBI36 |
| NG_008481.4:g.151397A>G , LRG_130:g.151397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2988A>G | ENSP00000484935.2:n.2988A>G | |
| ENST00000504915.3:c.3377A>G | ENSP00000473355.2:p.Asn1126Ser | |
| ENST00000505350.2:c.*3329A>G | ENSP00000481752.1:n.*3329A>G | |
| ENST00000507379.6:c.3269A>G | ENSP00000423224.2:p.Asn1090Ser | |
| ENST00000509732.6:c.3323A>G | ENSP00000426541.2:p.Asn1108Ser | |
| ENST00000512211.7:c.3323A>G | ENSP00000423828.3:p.Asn1108Ser | |
| ENST00000257430.9:c.3323A>G MANE Select | ENSP00000257430.4:p.Asn1108Ser | |
| ENST00000257430.8:c.3323A>G | ENSP00000257430.4:p.Asn1108Ser | |
| ENST00000502371.2:c.1676A>G | ||
| ENST00000507379.5:c.3269A>G | ENSP00000423224.1:p.Asn1090Ser | |
| ENST00000508376.6:c.3323A>G | ENSP00000427089.2:p.Asn1108Ser | |
| ENST00000508624.5:c.*2645A>G | ENSP00000424265.1:n.*2645A>G | |
| ENST00000512211.6:c.3323A>G | ENSP00000423828.2:p.Asn1108Ser | |
| ENST00000520401.1:c.230+9945A>G | ||
| NM_000038.5:c.3323A>G | NP_000029.2:p.Asn1108Ser | |
| NM_001127510.2:c.3323A>G | NP_001120982.1:p.Asn1108Ser | |
| NM_001127511.2:c.3269A>G | NP_001120983.2:p.Asn1090Ser | |
| NM_001354895.1:c.3323A>G | NP_001341824.1:p.Asn1108Ser | |
| NM_001354896.1:c.3377A>G | NP_001341825.1:p.Asn1126Ser | |
| NM_001354897.1:c.3353A>G | NP_001341826.1:p.Asn1118Ser | |
| NM_001354898.1:c.3248A>G | NP_001341827.1:p.Asn1083Ser | |
| NM_001354899.1:c.3239A>G | NP_001341828.1:p.Asn1080Ser | |
| NM_001354900.1:c.3200A>G | NP_001341829.1:p.Asn1067Ser | |
| NM_001354901.1:c.3146A>G | NP_001341830.1:p.Asn1049Ser | |
| NM_001354902.1:c.3050A>G | NP_001341831.1:p.Asn1017Ser | |
| NM_001354903.1:c.3020A>G | NP_001341832.1:p.Asn1007Ser | |
| NM_001354904.1:c.2945A>G | NP_001341833.1:p.Asn982Ser | |
| NM_001354905.1:c.2843A>G | NP_001341834.1:p.Asn948Ser | |
| NM_001354906.1:c.2474A>G | NP_001341835.1:p.Asn825Ser | |
| NM_000038.6:c.3323A>G MANE Select | NP_000029.2:p.Asn1108Ser | |
| NM_001127510.3:c.3323A>G | NP_001120982.1:p.Asn1108Ser | |
| NM_001127511.3:c.3269A>G | NP_001120983.2:p.Asn1090Ser | |
| NM_001354895.2:c.3323A>G | NP_001341824.1:p.Asn1108Ser | |
| NM_001354896.2:c.3377A>G | NP_001341825.1:p.Asn1126Ser | |
| NM_001354897.2:c.3353A>G | NP_001341826.1:p.Asn1118Ser | |
| NM_001354898.2:c.3248A>G | NP_001341827.1:p.Asn1083Ser | |
| NM_001354899.2:c.3239A>G | NP_001341828.1:p.Asn1080Ser | |
| NM_001354900.2:c.3200A>G | NP_001341829.1:p.Asn1067Ser | |
| NM_001354901.2:c.3146A>G | NP_001341830.1:p.Asn1049Ser | |
| NM_001354902.2:c.3050A>G | NP_001341831.1:p.Asn1017Ser | |
| NM_001354903.2:c.3020A>G | NP_001341832.1:p.Asn1007Ser | |
| NM_001354904.2:c.2945A>G | NP_001341833.1:p.Asn982Ser | |
| NM_001354905.2:c.2843A>G | NP_001341834.1:p.Asn948Ser | |
| NM_001354906.2:c.2474A>G | NP_001341835.1:p.Asn825Ser |