Linked Data
ClinVar Variation Id:
532249
dbSNP Id:
rs151220618
ExAC:
17:38785206 T / C
gnomAD v2:
17-38785206-T-C
gnomAD v3:
17-40628954-T-C
gnomAD v4:
17-40628954-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628954T>C , CM000679.2:g.40628954T>C | GRCh38 |
| NC_000017.10:g.38785206T>C , CM000679.1:g.38785206T>C | GRCh37 |
| NC_000017.9:g.36038732T>C | NCBI36 |
| NG_032163.1:g.23898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*629A>G | ENSP00000466608.2:n.*629A>G | |
| ENST00000348513.12:c.1067A>G MANE Select | ENSP00000323967.6:p.Asn356Ser | |
| ENST00000377808.9:c.*54A>G | ENSP00000367039.4:n.*54A>G | |
| ENST00000400122.8:c.*54A>G | ENSP00000411607.2:n.*54A>G | |
| ENST00000469334.6:n.1665A>G | ||
| ENST00000578044.6:c.857A>G | ENSP00000464511.1:p.Asn286Ser | |
| ENST00000578112.6:c.*864A>G | ENSP00000464501.1:n.*864A>G | |
| ENST00000580419.6:c.*46A>G | ENSP00000462475.2:n.*46A>G | |
| ENST00000642576.1:n.2210A>G | ||
| ENST00000643030.1:n.1690A>G | ||
| ENST00000643255.1:c.*3131A>G | ENSP00000493957.1:n.*3131A>G | |
| ENST00000643318.1:c.857A>G | ENSP00000494771.1:p.Asn286Ser | |
| ENST00000643378.1:n.1622A>G | ||
| ENST00000643683.1:c.1067A>G | ENSP00000496094.1:p.Asn356Ser | |
| ENST00000643893.1:n.1360A>G | ||
| ENST00000644443.1:n.2955A>G | ||
| ENST00000644523.1:n.1113A>G | ||
| ENST00000644527.1:c.839A>G | ENSP00000493974.1:p.Asn280Ser | |
| ENST00000644701.1:c.*54A>G | ENSP00000496097.1:n.*54A>G | |
| ENST00000644909.1:c.*336A>G | ENSP00000493649.1:n.*336A>G | |
| ENST00000645152.1:n.1730A>G | ||
| ENST00000645227.1:c.*755A>G | ENSP00000495021.1:n.*755A>G | |
| ENST00000646242.1:n.6979A>G | ||
| ENST00000646283.1:c.875A>G | ENSP00000494537.1:p.Asn292Ser | |
| ENST00000646401.1:n.2433A>G | ||
| ENST00000646448.1:n.2341A>G | ||
| ENST00000646856.1:c.*943A>G | ENSP00000494505.1:n.*943A>G | |
| ENST00000647294.1:c.*997A>G | ENSP00000494815.1:n.*997A>G | |
| ENST00000647508.1:c.962A>G | ENSP00000496445.1:p.Asn321Ser | |
| ENST00000647515.1:c.*598A>G | ENSP00000495857.1:n.*598A>G | |
| ENST00000348513.10:c.1067A>G | ENSP00000323967.6:p.Asn356Ser | |
| ENST00000377808.8:c.*54A>G | ENSP00000367039.4:n.*54A>G | |
| ENST00000400122.7:c.*54A>G | ENSP00000411607.2:n.*54A>G | |
| ENST00000431889.6:c.1013A>G | ENSP00000445370.1:p.Asn338Ser | |
| ENST00000469334.5:n.1654A>G | ||
| ENST00000476049.1:c.*1415A>G | ENSP00000463483.1:n.*1415A>G | |
| ENST00000578044.5:c.857A>G | ENSP00000464511.1:p.Asn286Ser | |
| ENST00000578112.5:c.*864A>G | ENSP00000464501.1:n.*864A>G | |
| ENST00000580419.5:c.962A>G | ENSP00000462475.1:p.Asn321Ser | |
| NM_003079.4:c.1067A>G | NP_003070.3:p.Asn356Ser | |
| NM_003079.5:c.1067A>G MANE Select | NP_003070.3:p.Asn356Ser |