Linked Data
ClinVar Variation Id:
303820
ClinVar RCV Id:
RCV000368359
dbSNP Id:
rs751538234
gnomAD v2:
11-1774039-C-T
gnomAD v3:
11-1752809-C-T
gnomAD v4:
11-1752809-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1752809C>T , CM000673.2:g.1752809C>T | GRCh38 |
| NC_000011.9:g.1774039C>T , CM000673.1:g.1774039C>T | GRCh37 |
| NC_000011.8:g.1730615C>T | NCBI36 |
| NG_008655.1:g.16184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.*694G>A MANE Select | ENSP00000236671.2:n.*694G>A | |
| ENST00000367196.4:c.*694G>A | ENSP00000356164.4:n.*694G>A | |
| ENST00000427721.3:c.634+724G>A | ||
| ENST00000429746.2:c.*694G>A | ENSP00000402586.2:n.*694G>A | |
| ENST00000433655.6:c.*1099G>A | ENSP00000404902.1:n.*1099G>A | |
| ENST00000636397.1:c.1071+994G>A | ENSP00000489910.1:n.1071+994G>A | |
| ENST00000636579.1:c.72+994G>A | ENSP00000490489.1:n.72+994G>A | |
| ENST00000636615.1:c.1071+994G>A | ENSP00000490014.1:n.1071+994G>A | |
| ENST00000637381.2:n.4361G>A | ||
| ENST00000637815.2:c.*694G>A | ENSP00000490344.1:n.*694G>A | |
| ENST00000637915.1:c.*694G>A | ENSP00000490471.1:n.*694G>A | |
| ENST00000637937.1:n.1241G>A | ||
| ENST00000678991.1:c.*1794G>A | ENSP00000503019.1:n.*1794G>A | |
| ENST00000236671.6:c.*694G>A | ENSP00000236671.2:n.*694G>A | |
| ENST00000427721.2:c.471+994G>A | ENSP00000415840.2:n.471+994G>A | |
| ENST00000433655.5:c.*1099G>A | ENSP00000404902.1:n.*1099G>A | |
| NM_001909.4:c.*694G>A | NP_001900.1:n.*694G>A | |
| NM_001909.5:c.*694G>A MANE Select | NP_001900.1:n.*694G>A |