Linked Data
ClinVar Variation Id:
377763
ClinVar RCV Id:
RCV000419827
dbSNP Id:
rs556410676
ExAC:
11:1774719 G / A
gnomAD v2:
11-1774719-G-A
gnomAD v3:
11-1753489-G-A
gnomAD v4:
11-1753489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753489G>A , CM000673.2:g.1753489G>A | GRCh38 |
| NC_000011.9:g.1774719G>A , CM000673.1:g.1774719G>A | GRCh37 |
| NC_000011.8:g.1731295G>A | NCBI36 |
| NG_008655.1:g.15504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.*14C>T MANE Select | ENSP00000236671.2:n.*14C>T | |
| ENST00000367196.4:c.*14C>T | ENSP00000356164.4:n.*14C>T | |
| ENST00000427721.3:c.634+44C>T | ||
| ENST00000429746.2:c.*14C>T | ENSP00000402586.2:n.*14C>T | |
| ENST00000433655.6:c.*419C>T | ENSP00000404902.1:n.*419C>T | |
| ENST00000438213.6:c.*14C>T | ENSP00000415036.2:n.*14C>T | |
| ENST00000636397.1:c.1071+314C>T | ENSP00000489910.1:n.1071+314C>T | |
| ENST00000636571.1:c.*14C>T | ENSP00000490770.1:n.*14C>T | |
| ENST00000636579.1:c.72+314C>T | ENSP00000490489.1:n.72+314C>T | |
| ENST00000636615.1:c.1071+314C>T | ENSP00000490014.1:n.1071+314C>T | |
| ENST00000636843.1:c.*14C>T | ENSP00000490897.1:n.*14C>T | |
| ENST00000637158.1:n.851C>T | ||
| ENST00000637381.2:n.3681C>T | ||
| ENST00000637387.1:c.*14C>T | ENSP00000490598.1:n.*14C>T | |
| ENST00000637815.2:c.*14C>T | ENSP00000490344.1:n.*14C>T | |
| ENST00000637915.1:c.*14C>T | ENSP00000490471.1:n.*14C>T | |
| ENST00000637937.1:n.561C>T | ||
| ENST00000678991.1:c.*1114C>T | ENSP00000503019.1:n.*1114C>T | |
| ENST00000236671.6:c.*14C>T | ENSP00000236671.2:n.*14C>T | |
| ENST00000427721.2:c.471+314C>T | ENSP00000415840.2:n.471+314C>T | |
| ENST00000429746.1:c.584C>T | ENSP00000402586.1:n.584C>T | |
| ENST00000433655.5:c.*419C>T | ENSP00000404902.1:n.*419C>T | |
| NM_001909.4:c.*14C>T | NP_001900.1:n.*14C>T | |
| NM_001909.5:c.*14C>T MANE Select | NP_001900.1:n.*14C>T |