Linked Data
dbSNP Id:
rs923067577
gnomAD v2:
10-104263734-C-G
gnomAD v3:
10-102503977-C-G
gnomAD v4:
10-102503977-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102503977C>G , CM000672.2:g.102503977C>G | GRCh38 |
| NC_000010.10:g.104263734C>G , CM000672.1:g.104263734C>G | GRCh37 |
| NC_000010.9:g.104253724C>G | NCBI36 |
| NG_011901.1:g.3779G>C | |
| NG_021338.1:g.5016C>G , LRG_521:g.5016C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369902.8:c.-176C>G MANE Select | ENSP00000358918.4:n.-176C>G | |
| NM_001178133.1:c.-176C>G | NP_001171604.1:n.-176C>G | |
| NM_016169.3:c.-176C>G , LRG_521t1:c.-176C>G | NP_057253.2:n.-176C>G | |
| XM_011539858.1:c.-176C>G | XP_011538160.1:n.-176C>G | |
| XM_011539859.1:c.-29-147C>G | XP_011538161.1:n.-29-147C>G | |
| XM_011539860.1:c.-176C>G | XP_011538162.1:n.-176C>G | |
| XM_011539863.1:c.8+991C>G | XP_011538165.1:n.8+991C>G | |
| XM_011539858.3:c.-176C>G | XP_011538160.1:n.-176C>G | |
| XM_011539860.3:c.-176C>G | XP_011538162.1:n.-176C>G | |
| XM_011539861.3:c.-176C>G | XP_011538163.1:n.-176C>G | |
| XM_011539863.3:c.8+991C>G | XP_011538165.1:n.8+991C>G | |
| XM_011539864.3:c.-176C>G | XP_011538166.1:n.-176C>G | |
| NM_001178133.2:c.-176C>G | NP_001171604.1:n.-176C>G | |
| NM_016169.4:c.-176C>G MANE Select | NP_057253.2:n.-176C>G |