Linked Data
ClinVar Variation Id:
1611793
ClinVar RCV Id:
RCV002148256
dbSNP Id:
rs1158604804
gnomAD v2:
10-79797076-A-G
gnomAD v4:
10-78037318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78037318A>G , CM000672.2:g.78037318A>G | GRCh38 |
| NC_000010.10:g.79797076A>G , CM000672.1:g.79797076A>G | GRCh37 |
| NC_000010.9:g.79467082A>G | NCBI36 |
| NG_012633.1:g.8559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360830.9:c.390+14A>G | ENSP00000354074.5:n.390+14A>G | |
| ENST00000372360.9:c.390+14A>G MANE Select | ENSP00000361435.4:n.390+14A>G | |
| ENST00000440692.6:c.390+14A>G | ENSP00000414321.1:n.390+14A>G | |
| ENST00000464716.6:c.390+14A>G | ENSP00000494231.1:n.390+14A>G | |
| ENST00000465692.2:n.401+14A>G | ||
| ENST00000476545.6:c.390+14A>G | ENSP00000494169.1:n.390+14A>G | |
| ENST00000478655.6:n.443A>G | ||
| ENST00000485708.7:n.429+14A>G | ||
| ENST00000613865.5:c.390+14A>G | ENSP00000478869.2:n.390+14A>G | |
| ENST00000645195.1:c.266+14A>G | ||
| ENST00000645440.1:c.390+14A>G | ENSP00000496738.1:n.390+14A>G | |
| ENST00000645698.1:n.418+14A>G | ||
| ENST00000360830.8:c.390+14A>G | ENSP00000354074.4:n.390+14A>G | |
| ENST00000372360.7:c.390+14A>G | ENSP00000361435.3:n.390+14A>G | |
| ENST00000435275.5:c.390+14A>G | ENSP00000415549.1:n.390+14A>G | |
| ENST00000440692.5:c.390+14A>G | ENSP00000414321.1:n.390+14A>G | |
| ENST00000464716.5:n.418+14A>G | ||
| ENST00000465692.1:n.387+14A>G | ||
| ENST00000476545.5:n.414+14A>G | ||
| ENST00000478655.5:n.443A>G | ||
| ENST00000482069.5:n.457+14A>G | ||
| ENST00000485708.6:n.448+14A>G | ||
| ENST00000613865.4:c.391-12A>G | ENSP00000478869.1:n.391-12A>G | |
| NM_001026.4:c.390+14A>G | NP_001017.1:n.390+14A>G | |
| NM_001142282.1:c.390+14A>G | NP_001135754.1:n.390+14A>G | |
| NM_001142283.1:c.390+14A>G | NP_001135755.1:n.390+14A>G | |
| NM_001142284.1:c.390+14A>G | NP_001135756.1:n.390+14A>G | |
| NM_001142285.1:c.390+14A>G | NP_001135757.1:n.390+14A>G | |
| NM_033022.3:c.390+14A>G | NP_148982.1:n.390+14A>G | |
| XM_011540034.1:c.543+14A>G | XP_011538336.1:n.543+14A>G | |
| XM_011540035.1:c.543+14A>G | XP_011538337.1:n.543+14A>G | |
| XM_011540036.1:c.543+14A>G | XP_011538338.1:n.543+14A>G | |
| XM_011540037.1:c.543+14A>G | XP_011538339.1:n.543+14A>G | |
| XM_011540038.1:c.543+14A>G | XP_011538340.1:n.543+14A>G | |
| NM_001142285.2:c.390+14A>G | NP_001135757.1:n.390+14A>G | |
| NM_033022.4:c.390+14A>G MANE Select | NP_148982.1:n.390+14A>G | |
| NM_001026.5:c.390+14A>G | NP_001017.1:n.390+14A>G | |
| NM_001142282.2:c.390+14A>G | NP_001135754.1:n.390+14A>G | |
| NM_001142283.2:c.390+14A>G | NP_001135755.1:n.390+14A>G | |
| NM_001142284.2:c.390+14A>G | NP_001135756.1:n.390+14A>G |