Linked Data
ClinVar Variation Id:
2710814
ClinVar RCV Id:
RCV003518177
dbSNP Id:
rs775672830
ExAC:
5:125885614 T / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126549922T>C , CM000667.2:g.126549922T>C | GRCh38 |
| NC_000005.9:g.125885614T>C , CM000667.1:g.125885614T>C | GRCh37 |
| NC_000005.8:g.125913513T>C | NCBI36 |
| NG_008600.2:g.50469A>G | |
| NG_008600.3:g.50469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1489+7A>G MANE Select | ENSP00000387123.3:n.1489+7A>G | |
| ENST00000458249.6:c.*1398+7A>G | ENSP00000403929.1:n.*1398+7A>G | |
| ENST00000485852.7:n.236+7A>G | ||
| ENST00000497231.7:n.1916+7A>G | ||
| ENST00000635851.1:c.1487+7A>G | ||
| ENST00000636062.1:n.1391A>G | ||
| ENST00000636225.1:c.*1433+7A>G | ENSP00000490797.1:n.*1433+7A>G | |
| ENST00000636286.1:n.1254+7A>G | ||
| ENST00000636482.1:n.1023+7A>G | ||
| ENST00000636743.1:c.1369+7A>G | ENSP00000489725.1:n.1369+7A>G | |
| ENST00000636808.1:c.*1298+7A>G | ENSP00000490833.1:n.*1298+7A>G | |
| ENST00000636872.1:c.1649+7A>G | ENSP00000490919.1:n.1649+7A>G | |
| ENST00000636879.1:c.1534+7A>G | ENSP00000490811.1:n.1534+7A>G | |
| ENST00000636886.1:c.1288+7A>G | ENSP00000490371.1:n.1288+7A>G | |
| ENST00000637206.1:c.1309+7A>G | ENSP00000489895.1:n.1309+7A>G | |
| ENST00000637272.1:c.1480+7A>G | ENSP00000489686.1:n.1480+7A>G | |
| ENST00000637292.1:c.945+7A>G | ||
| ENST00000637782.1:c.1489+7A>G | ENSP00000490024.1:n.1489+7A>G | |
| ENST00000638008.1:c.*1333+7A>G | ENSP00000490400.1:n.*1333+7A>G | |
| ENST00000638010.1:n.1435+7A>G | ||
| ENST00000409134.7:c.1489+7A>G | ENSP00000387123.3:n.1489+7A>G | |
| ENST00000447989.6:c.1378+7A>G | ENSP00000414132.2:n.1378+7A>G | |
| ENST00000476328.1:n.454A>G | ||
| ENST00000485852.6:n.236+7A>G | ||
| ENST00000497231.6:n.1699+7A>G | ||
| ENST00000553117.5:c.1297+7A>G | ENSP00000448593.1:n.1297+7A>G | |
| NM_001182.4:c.1489+7A>G | NP_001173.2:n.1489+7A>G | |
| NM_001201377.1:c.1405+7A>G | NP_001188306.1:n.1405+7A>G | |
| NM_001202404.1:c.1378+7A>G | NP_001189333.1:n.1378+7A>G | |
| XM_011543417.1:c.1084+7A>G | XP_011541719.1:n.1084+7A>G | |
| XM_011543417.2:c.1084+7A>G | XP_011541719.1:n.1084+7A>G | |
| NM_001182.5:c.1489+7A>G MANE Select | NP_001173.2:n.1489+7A>G | |
| NM_001201377.2:c.1405+7A>G | NP_001188306.1:n.1405+7A>G | |
| NM_001202404.2:c.1297+7A>G | NP_001189333.2:n.1297+7A>G |