Linked Data
ClinVar Variation Id:
1722325
ClinVar RCV Id:
RCV002302439
dbSNP Id:
rs966007186
gnomAD v3:
6-33202260-C-A
gnomAD v4:
6-33202260-C-A
MutSpliceDB:
CA1087652285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33202260C>A , CM000668.2:g.33202260C>A | GRCh38 |
| NC_000006.11:g.33170037C>A , CM000668.1:g.33170037C>A | GRCh37 |
| NC_000006.10:g.33278015C>A | NCBI36 |
| NG_023374.1:g.3396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698677.1:n.1565C>A | ||
| ENST00000698678.1:n.1547-3C>A | ||
| ENST00000698679.1:n.1809C>A | ||
| ENST00000698680.1:c.581-300C>A | ENSP00000513871.1:n.581-300C>A | |
| ENST00000698681.1:n.1347C>A | ||
| ENST00000698682.1:n.1055-3C>A | ||
| ENST00000698683.1:n.1189C>A | ||
| ENST00000698684.1:n.1347C>A | ||
| ENST00000698685.1:n.1081C>A | ||
| ENST00000698686.1:n.983C>A | ||
| ENST00000698687.1:c.581-3C>A | ENSP00000513872.1:n.581-3C>A | |
| ENST00000698688.1:c.635-71C>A | ENSP00000513873.1:n.635-71C>A | |
| ENST00000698689.1:n.776-3C>A | ||
| ENST00000698690.1:n.445C>A | ||
| ENST00000374677.8:c.635-3C>A MANE Select | ENSP00000363809.3:n.635-3C>A | |
| ENST00000374675.7:c.635-3C>A | ENSP00000363807.3:n.635-3C>A | |
| ENST00000374677.7:c.635-3C>A | ENSP00000363809.3:n.635-3C>A | |
| ENST00000444757.5:c.365-3C>A | ENSP00000400978.1:n.365-3C>A | |
| ENST00000463972.1:n.6C>A | ||
| ENST00000617885.1:c.635-3C>A | ENSP00000478192.1:n.635-3C>A | |
| NM_001077516.1:c.635-3C>A | NP_001070984.1:n.635-3C>A | |
| NM_001288777.1:c.260-3C>A | NP_001275706.1:n.260-3C>A | |
| NM_006979.2:c.635-3C>A | NP_008910.2:n.635-3C>A | |
| NM_006979.3:c.635-3C>A MANE Select | NP_008910.2:n.635-3C>A | |
| NM_001077516.2:c.635-3C>A | NP_001070984.1:n.635-3C>A | |
| NM_001288777.2:c.260-3C>A | NP_001275706.1:n.260-3C>A |