Linked Data
ClinVar Variation Id:
447274
dbSNP Id:
rs778548382
gnomAD v2:
19-10897233-C-G
gnomAD v4:
19-10786557-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10786557C>G , CM000681.2:g.10786557C>G | GRCh38 |
| NC_000019.9:g.10897233C>G , CM000681.1:g.10897233C>G | GRCh37 |
| NC_000019.8:g.10758233C>G | NCBI36 |
| NG_008792.1:g.73479C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.1038-7C>G | ||
| ENST00000682524.1:n.1038-7C>G | ||
| ENST00000683738.1:n.1038-7C>G | ||
| ENST00000355667.11:c.850-7C>G | ENSP00000347890.6:n.850-7C>G | |
| ENST00000389253.9:c.850-7C>G MANE Select | ENSP00000373905.4:n.850-7C>G | |
| ENST00000355667.10:c.850-7C>G | ENSP00000347890.6:n.850-7C>G | |
| ENST00000359692.10:c.850-7C>G | ENSP00000352721.6:n.850-7C>G | |
| ENST00000389253.8:c.850-7C>G | ENSP00000373905.3:n.850-7C>G | |
| ENST00000408974.8:c.850-7C>G | ENSP00000386192.3:n.850-7C>G | |
| ENST00000585892.5:c.850-7C>G | ENSP00000468734.1:n.850-7C>G | |
| ENST00000586130.1:n.128C>G | ||
| ENST00000587485.1:n.356-7C>G | ||
| ENST00000587830.2:c.106-7C>G | ENSP00000466603.2:n.106-7C>G | |
| ENST00000591701.5:n.210-7C>G | ||
| NM_001005360.2:c.850-7C>G | NP_001005360.1:n.850-7C>G | |
| NM_001005361.2:c.850-7C>G | NP_001005361.1:n.850-7C>G | |
| NM_001005362.2:c.850-7C>G | NP_001005362.1:n.850-7C>G | |
| NM_001190716.1:c.850-7C>G | NP_001177645.1:n.850-7C>G | |
| NM_004945.3:c.850-7C>G | NP_004936.2:n.850-7C>G | |
| NM_001005361.3:c.850-7C>G MANE Select | NP_001005361.1:n.850-7C>G | |
| NM_001190716.2:c.850-7C>G | NP_001177645.1:n.850-7C>G | |
| NM_001005360.3:c.850-7C>G | NP_001005360.1:n.850-7C>G | |
| NM_001005362.3:c.850-7C>G | NP_001005362.1:n.850-7C>G | |
| NM_004945.4:c.850-7C>G | NP_004936.2:n.850-7C>G |