Linked Data
dbSNP Id:
rs775735896
gnomAD v2:
1-66088711-C-G
gnomAD v3:
1-65623028-C-G
gnomAD v4:
1-65623028-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65623028C>G , CM000663.2:g.65623028C>G | GRCh38 |
| NC_000001.10:g.66088711C>G , CM000663.1:g.66088711C>G | GRCh37 |
| NC_000001.9:g.65861299C>G | NCBI36 |
| NG_015831.2:g.207464C>G , LRG_283:g.207464C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.2673+47C>G MANE Select | ENSP00000330393.7:n.2673+47C>G | |
| ENST00000344610.12:c.2673+47C>G | ENSP00000340884.8:n.2673+47C>G | |
| ENST00000349533.10:c.2673+47C>G | ENSP00000330393.6:n.2673+47C>G | |
| ENST00000371058.1:c.2673+47C>G | ENSP00000360097.1:n.2673+47C>G | |
| ENST00000371059.7:c.2673+47C>G | ENSP00000360098.3:n.2673+47C>G | |
| ENST00000371060.7:c.2673+47C>G | ENSP00000360099.3:n.2673+47C>G | |
| ENST00000406510.7:c.-126-13163C>G | ENSP00000384025.3:n.-126-13163C>G | |
| ENST00000471762.1:n.313C>G | ||
| ENST00000616738.4:c.2673+47C>G | ENSP00000483390.1:n.2673+47C>G | |
| NM_001003679.3:c.2673+47C>G , LRG_283t1:c.2673+47C>G | NP_001003679.1:n.2673+47C>G | |
| NM_001003680.3:c.2673+47C>G , LRG_283t2:c.2673+47C>G | NP_001003680.1:n.2673+47C>G | |
| NM_001198687.1:c.2673+47C>G | NP_001185616.1:n.2673+47C>G | |
| NM_001198688.1:c.2673+47C>G , LRG_283t4:c.2673+47C>G | NP_001185617.1:n.2673+47C>G | |
| NM_001198689.1:c.2673+47C>G | NP_001185618.1:n.2673+47C>G | |
| NM_002303.5:c.2673+47C>G , LRG_283t3:c.2673+47C>G | NP_002294.2:n.2673+47C>G | |
| NM_001198687.2:c.2673+47C>G | NP_001185616.1:n.2673+47C>G | |
| NM_002303.6:c.2673+47C>G MANE Select | NP_002294.2:n.2673+47C>G | |
| NM_001198689.2:c.2673+47C>G | NP_001185618.1:n.2673+47C>G |