Linked Data
ClinVar Variation Id:
2168533
ClinVar RCV Id:
RCV003092923
dbSNP Id:
rs772723204
ExAC:
11:1774801 C / T
gnomAD v2:
11-1774801-C-T
gnomAD v4:
11-1753571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753571C>T , CM000673.2:g.1753571C>T | GRCh38 |
| NC_000011.9:g.1774801C>T , CM000673.1:g.1774801C>T | GRCh37 |
| NC_000011.8:g.1731377C>T | NCBI36 |
| NG_008655.1:g.15422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1171G>A MANE Select | ENSP00000236671.2:p.Gly391Ser | |
| ENST00000367196.4:c.1066G>A | ENSP00000356164.4:p.Gly356Ser | |
| ENST00000427721.3:c.596G>A | ||
| ENST00000429746.2:c.1066G>A | ENSP00000402586.2:p.Gly356Ser | |
| ENST00000433655.6:c.*337G>A | ENSP00000404902.1:n.*337G>A | |
| ENST00000438213.6:c.1288G>A | ENSP00000415036.2:p.Gly430Ser | |
| ENST00000636397.1:c.1071+232G>A | ENSP00000489910.1:n.1071+232G>A | |
| ENST00000636571.1:c.1150G>A | ENSP00000490770.1:p.Gly384Ser | |
| ENST00000636579.1:c.72+232G>A | ENSP00000490489.1:n.72+232G>A | |
| ENST00000636615.1:c.1071+232G>A | ENSP00000490014.1:n.1071+232G>A | |
| ENST00000636843.1:c.1165G>A | ENSP00000490897.1:p.Gly389Ser | |
| ENST00000637158.1:n.769G>A | ||
| ENST00000637381.2:n.3599G>A | ||
| ENST00000637387.1:c.1150G>A | ENSP00000490598.1:p.Gly384Ser | |
| ENST00000637815.2:c.1153G>A | ENSP00000490344.1:p.Gly385Ser | |
| ENST00000637915.1:c.1162G>A | ENSP00000490471.1:p.Gly388Ser | |
| ENST00000637937.1:n.479G>A | ||
| ENST00000678991.1:c.*1032G>A | ENSP00000503019.1:n.*1032G>A | |
| ENST00000236671.6:c.1171G>A | ENSP00000236671.2:p.Gly391Ser | |
| ENST00000427721.2:c.471+232G>A | ENSP00000415840.2:n.471+232G>A | |
| ENST00000429746.1:c.502G>A | ENSP00000402586.1:p.Gly168Ser | |
| ENST00000433655.5:c.*337G>A | ENSP00000404902.1:n.*337G>A | |
| NM_001909.4:c.1171G>A | NP_001900.1:p.Gly391Ser | |
| NM_001909.5:c.1171G>A MANE Select | NP_001900.1:p.Gly391Ser |