Linked Data
dbSNP Id:
rs376656565
ExAC:
12:132425832 C / G
gnomAD v2:
12-132425832-C-G
gnomAD v3:
12-131941287-C-G
gnomAD v4:
12-131941287-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941287C>G , CM000674.2:g.131941287C>G | GRCh38 |
| NC_000012.11:g.132425832C>G , CM000674.1:g.132425832C>G | GRCh37 |
| NC_000012.10:g.130991785C>G | NCBI36 |
| NG_013039.1:g.17088C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.545-5C>G MANE Select | ENSP00000365837.3:n.545-5C>G | |
| ENST00000322060.9:c.461-5C>G | ENSP00000324726.5:n.461-5C>G | |
| ENST00000376649.7:c.545-5C>G | ENSP00000365837.3:n.545-5C>G | |
| ENST00000443358.6:c.461-5C>G | ENSP00000392451.2:n.461-5C>G | |
| ENST00000535067.5:c.358-2252C>G | ENSP00000443969.1:n.358-2252C>G | |
| ENST00000537484.1:c.470-5C>G | ENSP00000440179.1:n.470-5C>G | |
| ENST00000542167.2:c.386-5C>G | ENSP00000438948.1:n.386-5C>G | |
| ENST00000543754.1:n.361C>G | ||
| NM_001002019.2:c.461-5C>G | NP_001002019.1:n.461-5C>G | |
| NM_001002020.2:c.461-5C>G | NP_001002020.1:n.461-5C>G | |
| NM_025215.5:c.545-5C>G | NP_079491.2:n.545-5C>G | |
| XM_011538768.1:c.146-5C>G | XP_011537070.1:n.146-5C>G | |
| XM_011538768.3:c.146-5C>G | XP_011537070.1:n.146-5C>G | |
| XR_001748872.1:n.1000-5C>G | ||
| NM_001002019.3:c.461-5C>G | NP_001002019.1:n.461-5C>G | |
| NM_001002020.3:c.461-5C>G | NP_001002020.1:n.461-5C>G | |
| NM_025215.6:c.545-5C>G MANE Select | NP_079491.2:n.545-5C>G |