Linked Data
ClinVar Variation Id:
1167321
dbSNP Id:
rs6979
ExAC:
16:67691668 A / G
gnomAD v2:
16-67691668-A-G
gnomAD v3:
16-67657765-A-G
gnomAD v4:
16-67657765-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67657765A>G , CM000678.2:g.67657765A>G | GRCh38 |
| NC_000016.9:g.67691668A>G , CM000678.1:g.67691668A>G | GRCh37 |
| NC_000016.8:g.66249169A>G | NCBI36 |
| NG_042874.1:g.8051T>C | |
| NG_054728.1:g.17847A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000602382.6:c.961T>C | ENSP00000473313.2:p.Ser321Pro | |
| ENST00000602780.2:n.2300T>C | ||
| ENST00000602860.6:n.2215T>C | ||
| ENST00000695641.1:n.2404T>C | ||
| ENST00000695648.1:c.1277T>C | ENSP00000512081.1:p.Val426Ala | |
| ENST00000695656.1:n.2255T>C | ||
| ENST00000695657.1:n.1613T>C | ||
| ENST00000695658.1:c.1118T>C | ENSP00000512088.1:p.Val373Ala | |
| ENST00000695659.1:c.1313T>C | ENSP00000512089.1:p.Val438Ala | |
| ENST00000695662.1:c.*774T>C | ENSP00000512091.1:n.*774T>C | |
| ENST00000695694.1:c.1250T>C | ENSP00000512105.1:p.Val417Ala | |
| ENST00000695695.1:n.1361T>C | ||
| ENST00000695696.1:n.1342T>C | ||
| ENST00000695697.1:c.1208T>C | ENSP00000512106.1:p.Val403Ala | |
| ENST00000695698.1:n.1545T>C | ||
| ENST00000695699.1:n.1715T>C | ||
| ENST00000695709.1:n.570T>C | ||
| ENST00000695711.1:c.*603T>C | ENSP00000512109.1:n.*603T>C | |
| ENST00000695712.1:c.*1045T>C | ENSP00000512110.1:n.*1045T>C | |
| ENST00000695731.1:c.618T>C | ||
| ENST00000695732.1:c.734T>C | ENSP00000512125.1:p.Val245Ala | |
| ENST00000695733.1:c.874T>C | ENSP00000512126.1:p.Ser292Pro | |
| ENST00000695734.1:c.1295T>C | ENSP00000512127.1:p.Val432Ala | |
| ENST00000219251.13:c.1286T>C | ENSP00000219251.8:p.Val429Ala | |
| ENST00000620761.6:c.1295T>C MANE Select | ENSP00000478084.1:p.Val432Ala | |
| ENST00000219251.12:c.1544T>C | ENSP00000219251.7:p.Val515Ala | |
| ENST00000393919.8:c.1553T>C | ENSP00000377496.4:p.Val518Ala | |
| ENST00000602320.1:c.1247T>C | ENSP00000473679.2:p.Val416Ala | |
| ENST00000602382.5:c.503T>C | ||
| ENST00000602622.5:n.2294T>C | ||
| ENST00000602656.1:n.559T>C | ||
| ENST00000602860.5:n.1733T>C | ||
| ENST00000620338.4:c.1553T>C | ENSP00000483117.1:p.Val518Ala | |
| ENST00000620761.4:c.1295T>C | ENSP00000478084.1:p.Val432Ala | |
| NM_001082486.1:c.1553T>C | NP_001075955.1:p.Val518Ala | |
| NM_001082487.1:c.1505T>C | NP_001075956.1:p.Val502Ala | |
| NM_022914.2:c.1544T>C | NP_075065.2:p.Val515Ala | |
| XM_005256115.2:c.1466T>C | XP_005256172.1:p.Val489Ala | |
| NM_001082486.2:c.1295T>C MANE Select | NP_001075955.2:p.Val432Ala | |
| NM_022914.3:c.1286T>C | NP_075065.3:p.Val429Ala | |
| XM_005256115.4:c.1466T>C | XP_005256172.1:p.Val489Ala |