Linked Data
ClinVar Variation Id:
137046
dbSNP Id:
rs201434721
ExAC:
11:1774714 C / T
gnomAD v2:
11-1774714-C-T
gnomAD v3:
11-1753484-C-T
gnomAD v4:
11-1753484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753484C>T , CM000673.2:g.1753484C>T | GRCh38 |
| NC_000011.9:g.1774714C>T , CM000673.1:g.1774714C>T | GRCh37 |
| NC_000011.8:g.1731290C>T | NCBI36 |
| NG_008655.1:g.15509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.*19G>A MANE Select | ENSP00000236671.2:n.*19G>A | |
| ENST00000367196.4:c.*19G>A | ENSP00000356164.4:n.*19G>A | |
| ENST00000427721.3:c.634+49G>A | ||
| ENST00000429746.2:c.*19G>A | ENSP00000402586.2:n.*19G>A | |
| ENST00000433655.6:c.*424G>A | ENSP00000404902.1:n.*424G>A | |
| ENST00000438213.6:c.*19G>A | ENSP00000415036.2:n.*19G>A | |
| ENST00000636397.1:c.1071+319G>A | ENSP00000489910.1:n.1071+319G>A | |
| ENST00000636571.1:c.*19G>A | ENSP00000490770.1:n.*19G>A | |
| ENST00000636579.1:c.72+319G>A | ENSP00000490489.1:n.72+319G>A | |
| ENST00000636615.1:c.1071+319G>A | ENSP00000490014.1:n.1071+319G>A | |
| ENST00000636843.1:c.*19G>A | ENSP00000490897.1:n.*19G>A | |
| ENST00000637158.1:n.856G>A | ||
| ENST00000637381.2:n.3686G>A | ||
| ENST00000637387.1:c.*19G>A | ENSP00000490598.1:n.*19G>A | |
| ENST00000637815.2:c.*19G>A | ENSP00000490344.1:n.*19G>A | |
| ENST00000637915.1:c.*19G>A | ENSP00000490471.1:n.*19G>A | |
| ENST00000637937.1:n.566G>A | ||
| ENST00000678991.1:c.*1119G>A | ENSP00000503019.1:n.*1119G>A | |
| ENST00000236671.6:c.*19G>A | ENSP00000236671.2:n.*19G>A | |
| ENST00000427721.2:c.471+319G>A | ENSP00000415840.2:n.471+319G>A | |
| ENST00000429746.1:c.589G>A | ENSP00000402586.1:n.589G>A | |
| ENST00000433655.5:c.*424G>A | ENSP00000404902.1:n.*424G>A | |
| NM_001909.4:c.*19G>A | NP_001900.1:n.*19G>A | |
| NM_001909.5:c.*19G>A MANE Select | NP_001900.1:n.*19G>A |