Linked Data
ClinVar Variation Id:
200444
dbSNP Id:
rs794728391
gnomAD v4:
7-150950167-C-G
PubMed:
PMID:7889573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950167C>G , CM000669.2:g.150950167C>G | GRCh38 |
| NC_000007.13:g.150647255C>G , CM000669.1:g.150647255C>G | GRCh37 |
| NC_000007.12:g.150278188C>G | NCBI36 |
| NG_008916.1:g.32760G>C , LRG_288:g.32760G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1697G>C | ||
| ENST00000684241.1:n.3231+1G>C | ||
| ENST00000262186.10:c.2398+1G>C MANE Select | ENSP00000262186.5:n.2398+1G>C | |
| ENST00000330883.9:c.1378+1G>C | ENSP00000328531.4:n.1378+1G>C | |
| ENST00000262186.9:c.2398+1G>C | ENSP00000262186.5:n.2398+1G>C | |
| ENST00000330883.8:c.1378+1G>C | ENSP00000328531.4:n.1378+1G>C | |
| ENST00000430723.4:c.2051G>C | ENSP00000387657.4:p.Gly684Ala | |
| ENST00000461280.1:n.1686G>C | ||
| ENST00000473610.5:n.2031G>C | ||
| ENST00000532957.5:n.2622G>C | ||
| NM_000238.3:c.2398+1G>C , LRG_288t1:c.2398+1G>C | NP_000229.1:n.2398+1G>C | |
| NM_001204798.1:c.1379G>C | NP_001191727.1:p.Gly460Ala | |
| NM_172056.2:c.2399G>C , LRG_288t2:c.2399G>C | NP_742053.1:p.Gly800Ala | |
| NM_172057.2:c.1378+1G>C , LRG_288t3:c.1378+1G>C | NP_742054.1:n.1378+1G>C | |
| XM_011516185.1:c.2098+1G>C | XP_011514487.1:n.2098+1G>C | |
| XM_011516186.1:c.2398+1G>C | XP_011514488.1:n.2398+1G>C | |
| XM_011516185.2:c.2098+1G>C | XP_011514487.1:n.2098+1G>C | |
| XM_011516186.3:c.2398+1G>C | XP_011514488.1:n.2398+1G>C | |
| XM_017012195.1:c.2248+1G>C | XP_016867684.1:n.2248+1G>C | |
| XM_017012196.1:c.2221+1G>C | XP_016867685.1:n.2221+1G>C | |
| NM_000238.4:c.2398+1G>C MANE Select | NP_000229.1:n.2398+1G>C | |
| NM_001204798.2:c.1379G>C | NP_001191727.1:p.Gly460Ala | |
| NM_172057.3:c.1378+1G>C | NP_742054.1:n.1378+1G>C |