Linked Data
ClinVar Variation Id:
137043
dbSNP Id:
rs113936232
ExAC:
11:1775021 T / C
gnomAD v2:
11-1775021-T-C
gnomAD v3:
11-1753791-T-C
gnomAD v4:
11-1753791-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753791T>C , CM000673.2:g.1753791T>C | GRCh38 |
| NC_000011.9:g.1775021T>C , CM000673.1:g.1775021T>C | GRCh37 |
| NC_000011.8:g.1731597T>C | NCBI36 |
| NG_008655.1:g.15202A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1071+12A>G MANE Select | ENSP00000236671.2:n.1071+12A>G | |
| ENST00000367196.4:c.966+12A>G | ENSP00000356164.4:n.966+12A>G | |
| ENST00000427721.3:c.496+12A>G | ||
| ENST00000429746.2:c.966+12A>G | ENSP00000402586.2:n.966+12A>G | |
| ENST00000433655.6:c.*237+12A>G | ENSP00000404902.1:n.*237+12A>G | |
| ENST00000438213.6:c.1188+12A>G | ENSP00000415036.2:n.1188+12A>G | |
| ENST00000497544.3:n.779+12A>G | ||
| ENST00000636397.1:c.1071+12A>G | ENSP00000489910.1:n.1071+12A>G | |
| ENST00000636571.1:c.1050+12A>G | ENSP00000490770.1:n.1050+12A>G | |
| ENST00000636579.1:c.72+12A>G | ENSP00000490489.1:n.72+12A>G | |
| ENST00000636615.1:c.1071+12A>G | ENSP00000490014.1:n.1071+12A>G | |
| ENST00000636843.1:c.1065+12A>G | ENSP00000490897.1:n.1065+12A>G | |
| ENST00000637158.1:n.669+12A>G | ||
| ENST00000637381.2:n.3499+12A>G | ||
| ENST00000637387.1:c.1050+12A>G | ENSP00000490598.1:n.1050+12A>G | |
| ENST00000637815.2:c.1053+12A>G | ENSP00000490344.1:n.1053+12A>G | |
| ENST00000637915.1:c.1071+12A>G | ENSP00000490471.1:n.1071+12A>G | |
| ENST00000637937.1:n.379+12A>G | ||
| ENST00000678991.1:c.*932+12A>G | ENSP00000503019.1:n.*932+12A>G | |
| ENST00000236671.6:c.1071+12A>G | ENSP00000236671.2:n.1071+12A>G | |
| ENST00000427721.2:c.471+12A>G | ENSP00000415840.2:n.471+12A>G | |
| ENST00000429746.1:c.402+12A>G | ENSP00000402586.1:n.402+12A>G | |
| ENST00000433655.5:c.*237+12A>G | ENSP00000404902.1:n.*237+12A>G | |
| NM_001909.4:c.1071+12A>G | NP_001900.1:n.1071+12A>G | |
| NM_001909.5:c.1071+12A>G MANE Select | NP_001900.1:n.1071+12A>G |