Linked Data
ClinVar Variation Id:
303843
dbSNP Id:
rs756112449
ExAC:
11:1785126 C / T
gnomAD v2:
11-1785126-C-T
gnomAD v3:
11-1763896-C-T
gnomAD v4:
11-1763896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1763896C>T , CM000673.2:g.1763896C>T | GRCh38 |
| NC_000011.9:g.1785126C>T , CM000673.1:g.1785126C>T | GRCh37 |
| NC_000011.8:g.1741702C>T | NCBI36 |
| NG_008655.1:g.5097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.-37G>A MANE Select | ENSP00000236671.2:n.-37G>A | |
| ENST00000429746.2:c.-38+624G>A | ENSP00000402586.2:n.-38+624G>A | |
| ENST00000433655.6:c.-37G>A | ENSP00000404902.1:n.-37G>A | |
| ENST00000438213.6:c.-37G>A | ENSP00000415036.2:n.-37G>A | |
| ENST00000636397.1:c.-37G>A | ENSP00000489910.1:n.-37G>A | |
| ENST00000636571.1:c.-37G>A | ENSP00000490770.1:n.-37G>A | |
| ENST00000636615.1:c.-37G>A | ENSP00000490014.1:n.-37G>A | |
| ENST00000636843.1:c.-37G>A | ENSP00000490897.1:n.-37G>A | |
| ENST00000637381.2:n.69G>A | ||
| ENST00000637387.1:c.-37G>A | ENSP00000490598.1:n.-37G>A | |
| ENST00000637815.2:c.-37G>A | ENSP00000490344.1:n.-37G>A | |
| ENST00000637915.1:c.-37G>A | ENSP00000490471.1:n.-37G>A | |
| ENST00000678991.1:c.-37G>A | ENSP00000503019.1:n.-37G>A | |
| ENST00000236671.6:c.-37G>A | ENSP00000236671.2:n.-37G>A | |
| ENST00000433655.5:c.-37G>A | ENSP00000404902.1:n.-37G>A | |
| NM_001909.4:c.-37G>A | NP_001900.1:n.-37G>A | |
| NM_001909.5:c.-37G>A MANE Select | NP_001900.1:n.-37G>A |