Linked Data
ClinVar Variation Id:
698511
dbSNP Id:
rs750936389
ExAC:
2:145156412 T / C
gnomAD v2:
2-145156412-T-C
gnomAD v3:
2-144398845-T-C
gnomAD v4:
2-144398845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398845T>C , CM000664.2:g.144398845T>C | GRCh38 |
| NC_000002.11:g.145156412T>C , CM000664.1:g.145156412T>C | GRCh37 |
| NC_000002.10:g.144872882T>C | NCBI36 |
| NG_016431.1:g.126547A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2191A>G | ENSP00000508434.1:n.*2191A>G | |
| ENST00000440875.6:c.1565A>G | ENSP00000475553.3:p.Asn522Ser | |
| ENST00000627532.3:c.2342A>G MANE Select | ENSP00000487174.1:p.Asn781Ser | |
| ENST00000636026.2:c.2342A>G | ENSP00000490776.1:p.Asn781Ser | |
| ENST00000636179.1:n.2311A>G | ||
| ENST00000636413.1:c.2006A>G | ENSP00000490508.1:p.Asn669Ser | |
| ENST00000636471.1:c.2417A>G | ENSP00000490317.1:p.Asn806Ser | |
| ENST00000636732.2:c.*2059A>G | ENSP00000490175.1:n.*2059A>G | |
| ENST00000636820.1:n.2442A>G | ||
| ENST00000637045.1:c.2006A>G | ENSP00000490141.1:p.Asn669Ser | |
| ENST00000637304.1:c.2006A>G | ENSP00000490872.1:p.Asn669Ser | |
| ENST00000638007.1:c.2006A>G | ENSP00000490723.1:p.Asn669Ser | |
| ENST00000638087.1:c.2006A>G | ENSP00000490673.1:p.Asn669Ser | |
| ENST00000638128.1:c.1565A>G | ENSP00000490934.1:p.Asn522Ser | |
| ENST00000675069.1:c.-128A>G | ENSP00000502467.1:n.-128A>G | |
| ENST00000675145.1:n.2890A>G | ||
| ENST00000303660.8:c.2339A>G | ENSP00000302501.4:p.Asn780Ser | |
| ENST00000409487.7:c.2342A>G | ENSP00000386854.2:p.Asn781Ser | |
| ENST00000419938.5:c.655+2354A>G | ENSP00000394777.2:n.655+2354A>G | |
| ENST00000440875.5:c.1167+692A>G | ENSP00000475553.2:n.1167+692A>G | |
| ENST00000539609.7:c.2270A>G | ENSP00000443792.2:p.Asn757Ser | |
| ENST00000558170.6:c.2342A>G | ENSP00000454157.1:p.Asn781Ser | |
| ENST00000627532.2:c.2342A>G | ENSP00000487174.1:p.Asn781Ser | |
| NM_001171653.1:c.2270A>G | NP_001165124.1:p.Asn757Ser | |
| NM_014795.3:c.2342A>G | NP_055610.1:p.Asn781Ser | |
| XM_006712881.2:c.2342A>G | XP_006712944.1:p.Asn781Ser | |
| XM_006712882.2:c.2342A>G | XP_006712945.1:p.Asn781Ser | |
| XM_011512231.1:c.2333A>G | XP_011510533.1:p.Asn778Ser | |
| XM_011512232.1:c.2321A>G | XP_011510534.1:p.Asn774Ser | |
| NM_014795.4:c.2342A>G MANE Select | NP_055610.1:p.Asn781Ser | |
| NM_001171653.2:c.2270A>G | NP_001165124.1:p.Asn757Ser |