Linked Data
dbSNP Id:
rs776683270
ExAC:
11:118210667 T / C
gnomAD v2:
11-118210667-T-C
gnomAD v4:
11-118339952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339952T>C , CM000673.2:g.118339952T>C | GRCh38 |
| NC_000011.9:g.118210667T>C , CM000673.1:g.118210667T>C | GRCh37 |
| NC_000011.8:g.117715877T>C | NCBI36 |
| NG_007566.1:g.609T>C , LRG_39:g.609T>C | |
| NG_009891.1:g.7793A>G , LRG_37:g.7793A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.716A>G | ||
| ENST00000695667.1:n.280-46A>G | ||
| ENST00000695668.1:n.2260-46A>G | ||
| ENST00000300692.9:c.275-46A>G MANE Select | ENSP00000300692.4:n.275-46A>G | |
| ENST00000300692.8:c.275-46A>G | ENSP00000300692.4:n.275-46A>G | |
| ENST00000392884.2:c.274+423A>G | ENSP00000376622.2:n.274+423A>G | |
| ENST00000526561.1:n.80-458A>G | ||
| ENST00000529594.5:c.56-46A>G | ENSP00000437335.1:n.56-46A>G | |
| ENST00000534687.5:c.287+423A>G | ||
| NM_000732.4:c.275-46A>G , LRG_37t1:c.275-46A>G | NP_000723.1:n.275-46A>G | |
| NM_001040651.1:c.274+423A>G | NP_001035741.1:n.274+423A>G | |
| NM_001040651.2:c.274+423A>G | NP_001035741.1:n.274+423A>G | |
| NM_000732.6:c.275-46A>G MANE Select | NP_000723.1:n.275-46A>G |