Linked Data
ClinVar Variation Id:
409623
dbSNP Id:
rs779858404
ExAC:
11:1774764 C / G
gnomAD v2:
11-1774764-C-G
gnomAD v4:
11-1753534-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753534C>G , CM000673.2:g.1753534C>G | GRCh38 |
| NC_000011.9:g.1774764C>G , CM000673.1:g.1774764C>G | GRCh37 |
| NC_000011.8:g.1731340C>G | NCBI36 |
| NG_008655.1:g.15459G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1208G>C MANE Select | ENSP00000236671.2:p.Arg403Thr | |
| ENST00000367196.4:c.1103G>C | ENSP00000356164.4:p.Arg368Thr | |
| ENST00000427721.3:c.633G>C | ||
| ENST00000429746.2:c.1103G>C | ENSP00000402586.2:p.Arg368Thr | |
| ENST00000433655.6:c.*374G>C | ENSP00000404902.1:n.*374G>C | |
| ENST00000438213.6:c.1325G>C | ENSP00000415036.2:p.Arg442Thr | |
| ENST00000636397.1:c.1071+269G>C | ENSP00000489910.1:n.1071+269G>C | |
| ENST00000636571.1:c.1187G>C | ENSP00000490770.1:p.Arg396Thr | |
| ENST00000636579.1:c.72+269G>C | ENSP00000490489.1:n.72+269G>C | |
| ENST00000636615.1:c.1071+269G>C | ENSP00000490014.1:n.1071+269G>C | |
| ENST00000636843.1:c.1202G>C | ENSP00000490897.1:p.Arg401Thr | |
| ENST00000637158.1:n.806G>C | ||
| ENST00000637381.2:n.3636G>C | ||
| ENST00000637387.1:c.1187G>C | ENSP00000490598.1:p.Arg396Thr | |
| ENST00000637815.2:c.1190G>C | ENSP00000490344.1:p.Arg397Thr | |
| ENST00000637915.1:c.1199G>C | ENSP00000490471.1:p.Arg400Thr | |
| ENST00000637937.1:n.516G>C | ||
| ENST00000678991.1:c.*1069G>C | ENSP00000503019.1:n.*1069G>C | |
| ENST00000236671.6:c.1208G>C | ENSP00000236671.2:p.Arg403Thr | |
| ENST00000427721.2:c.471+269G>C | ENSP00000415840.2:n.471+269G>C | |
| ENST00000429746.1:c.539G>C | ENSP00000402586.1:p.Arg180Thr | |
| ENST00000433655.5:c.*374G>C | ENSP00000404902.1:n.*374G>C | |
| NM_001909.4:c.1208G>C | NP_001900.1:p.Arg403Thr | |
| NM_001909.5:c.1208G>C MANE Select | NP_001900.1:p.Arg403Thr |