Linked Data
ClinVar Variation Id:
1583617
ClinVar RCV Id:
RCV002099907
dbSNP Id:
rs1239405435
gnomAD v3:
11-1753679-G-A
gnomAD v4:
11-1753679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753679G>A , CM000673.2:g.1753679G>A | GRCh38 |
| NC_000011.9:g.1774909G>A , CM000673.1:g.1774909G>A | GRCh37 |
| NC_000011.8:g.1731485G>A | NCBI36 |
| NG_008655.1:g.15314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1072-9C>T MANE Select | ENSP00000236671.2:n.1072-9C>T | |
| ENST00000367196.4:c.967-9C>T | ENSP00000356164.4:n.967-9C>T | |
| ENST00000427721.3:c.497-9C>T | ||
| ENST00000429746.2:c.967-9C>T | ENSP00000402586.2:n.967-9C>T | |
| ENST00000433655.6:c.*238-9C>T | ENSP00000404902.1:n.*238-9C>T | |
| ENST00000438213.6:c.1189-9C>T | ENSP00000415036.2:n.1189-9C>T | |
| ENST00000497544.3:n.780-9C>T | ||
| ENST00000636397.1:c.1071+124C>T | ENSP00000489910.1:n.1071+124C>T | |
| ENST00000636571.1:c.1051-9C>T | ENSP00000490770.1:n.1051-9C>T | |
| ENST00000636579.1:c.72+124C>T | ENSP00000490489.1:n.72+124C>T | |
| ENST00000636615.1:c.1071+124C>T | ENSP00000490014.1:n.1071+124C>T | |
| ENST00000636843.1:c.1066-9C>T | ENSP00000490897.1:n.1066-9C>T | |
| ENST00000637158.1:n.670-9C>T | ||
| ENST00000637381.2:n.3500-9C>T | ||
| ENST00000637387.1:c.1051-9C>T | ENSP00000490598.1:n.1051-9C>T | |
| ENST00000637815.2:c.1054-9C>T | ENSP00000490344.1:n.1054-9C>T | |
| ENST00000637915.1:c.1072-18C>T | ENSP00000490471.1:n.1072-18C>T | |
| ENST00000637937.1:n.380-9C>T | ||
| ENST00000678991.1:c.*933-9C>T | ENSP00000503019.1:n.*933-9C>T | |
| ENST00000236671.6:c.1072-9C>T | ENSP00000236671.2:n.1072-9C>T | |
| ENST00000427721.2:c.471+124C>T | ENSP00000415840.2:n.471+124C>T | |
| ENST00000429746.1:c.403-9C>T | ENSP00000402586.1:n.403-9C>T | |
| ENST00000433655.5:c.*238-9C>T | ENSP00000404902.1:n.*238-9C>T | |
| NM_001909.4:c.1072-9C>T | NP_001900.1:n.1072-9C>T | |
| NM_001909.5:c.1072-9C>T MANE Select | NP_001900.1:n.1072-9C>T |