Linked Data
dbSNP Id:
rs370522137
ExAC:
11:1774945 C / T
gnomAD v2:
11-1774945-C-T
gnomAD v3:
11-1753715-C-T
gnomAD v4:
11-1753715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753715C>T , CM000673.2:g.1753715C>T | GRCh38 |
| NC_000011.9:g.1774945C>T , CM000673.1:g.1774945C>T | GRCh37 |
| NC_000011.8:g.1731521C>T | NCBI36 |
| NG_008655.1:g.15278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1072-45G>A MANE Select | ENSP00000236671.2:n.1072-45G>A | |
| ENST00000367196.4:c.967-45G>A | ENSP00000356164.4:n.967-45G>A | |
| ENST00000427721.3:c.497-45G>A | ||
| ENST00000429746.2:c.967-45G>A | ENSP00000402586.2:n.967-45G>A | |
| ENST00000433655.6:c.*238-45G>A | ENSP00000404902.1:n.*238-45G>A | |
| ENST00000438213.6:c.1189-45G>A | ENSP00000415036.2:n.1189-45G>A | |
| ENST00000497544.3:n.780-45G>A | ||
| ENST00000636397.1:c.1071+88G>A | ENSP00000489910.1:n.1071+88G>A | |
| ENST00000636571.1:c.1051-45G>A | ENSP00000490770.1:n.1051-45G>A | |
| ENST00000636579.1:c.72+88G>A | ENSP00000490489.1:n.72+88G>A | |
| ENST00000636615.1:c.1071+88G>A | ENSP00000490014.1:n.1071+88G>A | |
| ENST00000636843.1:c.1066-45G>A | ENSP00000490897.1:n.1066-45G>A | |
| ENST00000637158.1:n.670-45G>A | ||
| ENST00000637381.2:n.3500-45G>A | ||
| ENST00000637387.1:c.1051-45G>A | ENSP00000490598.1:n.1051-45G>A | |
| ENST00000637815.2:c.1054-45G>A | ENSP00000490344.1:n.1054-45G>A | |
| ENST00000637915.1:c.1072-54G>A | ENSP00000490471.1:n.1072-54G>A | |
| ENST00000637937.1:n.380-45G>A | ||
| ENST00000678991.1:c.*933-45G>A | ENSP00000503019.1:n.*933-45G>A | |
| ENST00000236671.6:c.1072-45G>A | ENSP00000236671.2:n.1072-45G>A | |
| ENST00000427721.2:c.471+88G>A | ENSP00000415840.2:n.471+88G>A | |
| ENST00000429746.1:c.403-45G>A | ENSP00000402586.1:n.403-45G>A | |
| ENST00000433655.5:c.*238-45G>A | ENSP00000404902.1:n.*238-45G>A | |
| NM_001909.4:c.1072-45G>A | NP_001900.1:n.1072-45G>A | |
| NM_001909.5:c.1072-45G>A MANE Select | NP_001900.1:n.1072-45G>A |