Linked Data
dbSNP Id:
rs1002180390
gnomAD v2:
7-150652699-G-C
gnomAD v3:
7-150955611-G-C
gnomAD v4:
7-150955611-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150955611G>C , CM000669.2:g.150955611G>C | GRCh38 |
| NC_000007.13:g.150652699G>C , CM000669.1:g.150652699G>C | GRCh37 |
| NC_000007.12:g.150283632G>C | NCBI36 |
| NG_008916.1:g.27316C>G , LRG_288:g.27316C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.211C>G | ||
| ENST00000684241.1:n.1961+1680C>G | ||
| ENST00000262186.10:c.1128+1680C>G MANE Select | ENSP00000262186.5:n.1128+1680C>G | |
| ENST00000330883.9:c.-108C>G | ENSP00000328531.4:n.-108C>G | |
| ENST00000262186.9:c.1128+1680C>G | ENSP00000262186.5:n.1128+1680C>G | |
| ENST00000330883.8:c.-108C>G | ENSP00000328531.4:n.-108C>G | |
| ENST00000430723.4:c.780+1680C>G | ENSP00000387657.4:n.780+1680C>G | |
| ENST00000461280.1:n.200C>G | ||
| ENST00000473610.5:n.218C>G | ||
| ENST00000532957.5:n.1351+1680C>G | ||
| NM_000238.3:c.1128+1680C>G , LRG_288t1:c.1128+1680C>G | NP_000229.1:n.1128+1680C>G | |
| NM_001204798.1:c.-108C>G | NP_001191727.1:n.-108C>G | |
| NM_172056.2:c.1128+1680C>G , LRG_288t2:c.1128+1680C>G | NP_742053.1:n.1128+1680C>G | |
| NM_172057.2:c.-108C>G , LRG_288t3:c.-108C>G | NP_742054.1:n.-108C>G | |
| XM_011516185.1:c.828+1680C>G | XP_011514487.1:n.828+1680C>G | |
| XM_011516186.1:c.1128+1680C>G | XP_011514488.1:n.1128+1680C>G | |
| XM_011516185.2:c.828+1680C>G | XP_011514487.1:n.828+1680C>G | |
| XM_011516186.3:c.1128+1680C>G | XP_011514488.1:n.1128+1680C>G | |
| XM_017012195.1:c.978+1680C>G | XP_016867684.1:n.978+1680C>G | |
| XM_017012196.1:c.951+1680C>G | XP_016867685.1:n.951+1680C>G | |
| NM_000238.4:c.1128+1680C>G MANE Select | NP_000229.1:n.1128+1680C>G | |
| NM_001204798.2:c.-108C>G | NP_001191727.1:n.-108C>G | |
| NM_172057.3:c.-108C>G | NP_742054.1:n.-108C>G |