Linked Data
dbSNP Id:
rs145263984
gnomAD v2:
7-150647241-C-A
gnomAD v3:
7-150950153-C-A
gnomAD v4:
7-150950153-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950153C>A , CM000669.2:g.150950153C>A | GRCh38 |
| NC_000007.13:g.150647241C>A , CM000669.1:g.150647241C>A | GRCh37 |
| NC_000007.12:g.150278174C>A | NCBI36 |
| NG_008916.1:g.32774G>T , LRG_288:g.32774G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1711G>T | ||
| ENST00000684241.1:n.3231+15G>T | ||
| ENST00000262186.10:c.2398+15G>T MANE Select | ENSP00000262186.5:n.2398+15G>T | |
| ENST00000330883.9:c.1378+15G>T | ENSP00000328531.4:n.1378+15G>T | |
| ENST00000262186.9:c.2398+15G>T | ENSP00000262186.5:n.2398+15G>T | |
| ENST00000330883.8:c.1378+15G>T | ENSP00000328531.4:n.1378+15G>T | |
| ENST00000430723.4:c.2065G>T | ENSP00000387657.4:p.Ala689Ser | |
| ENST00000461280.1:n.1700G>T | ||
| ENST00000473610.5:n.2045G>T | ||
| ENST00000532957.5:n.2636G>T | ||
| NM_000238.3:c.2398+15G>T , LRG_288t1:c.2398+15G>T | NP_000229.1:n.2398+15G>T | |
| NM_001204798.1:c.1393G>T | NP_001191727.1:p.Ala465Ser | |
| NM_172056.2:c.2413G>T , LRG_288t2:c.2413G>T | NP_742053.1:p.Ala805Ser | |
| NM_172057.2:c.1378+15G>T , LRG_288t3:c.1378+15G>T | NP_742054.1:n.1378+15G>T | |
| XM_011516185.1:c.2098+15G>T | XP_011514487.1:n.2098+15G>T | |
| XM_011516186.1:c.2398+15G>T | XP_011514488.1:n.2398+15G>T | |
| XM_011516185.2:c.2098+15G>T | XP_011514487.1:n.2098+15G>T | |
| XM_011516186.3:c.2398+15G>T | XP_011514488.1:n.2398+15G>T | |
| XM_017012195.1:c.2248+15G>T | XP_016867684.1:n.2248+15G>T | |
| XM_017012196.1:c.2221+15G>T | XP_016867685.1:n.2221+15G>T | |
| NM_000238.4:c.2398+15G>T MANE Select | NP_000229.1:n.2398+15G>T | |
| NM_001204798.2:c.1393G>T | NP_001191727.1:p.Ala465Ser | |
| NM_172057.3:c.1378+15G>T | NP_742054.1:n.1378+15G>T |