Linked Data
ClinVar Variation Id:
67220
dbSNP Id:
rs199472916
gnomAD v2:
7-150648881-G-A
gnomAD v4:
7-150951793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951793G>A , CM000669.2:g.150951793G>A | GRCh38 |
| NC_000007.13:g.150648881G>A , CM000669.1:g.150648881G>A | GRCh37 |
| NC_000007.12:g.150279814G>A | NCBI36 |
| NG_008916.1:g.31134C>T , LRG_288:g.31134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.898C>T | ||
| ENST00000684116.1:n.493C>T | ||
| ENST00000684241.1:n.2433C>T | ||
| ENST00000262186.10:c.1600C>T MANE Select | ENSP00000262186.5:p.Arg534Cys | |
| ENST00000330883.9:c.580C>T | ENSP00000328531.4:p.Arg194Cys | |
| ENST00000262186.9:c.1600C>T | ENSP00000262186.5:p.Arg534Cys | |
| ENST00000330883.8:c.580C>T | ENSP00000328531.4:p.Arg194Cys | |
| ENST00000430723.4:c.1252C>T | ENSP00000387657.4:p.Arg418Cys | |
| ENST00000461280.1:n.887C>T | ||
| ENST00000473610.5:n.905C>T | ||
| ENST00000532957.5:n.1823C>T | ||
| NM_000238.3:c.1600C>T , LRG_288t1:c.1600C>T | NP_000229.1:p.Arg534Cys | |
| NM_001204798.1:c.580C>T | NP_001191727.1:p.Arg194Cys | |
| NM_172056.2:c.1600C>T , LRG_288t2:c.1600C>T | NP_742053.1:p.Arg534Cys | |
| NM_172057.2:c.580C>T , LRG_288t3:c.580C>T | NP_742054.1:p.Arg194Cys | |
| XM_011516185.1:c.1300C>T | XP_011514487.1:p.Arg434Cys | |
| XM_011516186.1:c.1600C>T | XP_011514488.1:p.Arg534Cys | |
| XM_011516185.2:c.1300C>T | XP_011514487.1:p.Arg434Cys | |
| XM_011516186.3:c.1600C>T | XP_011514488.1:p.Arg534Cys | |
| XM_017012195.1:c.1450C>T | XP_016867684.1:p.Arg484Cys | |
| XM_017012196.1:c.1423C>T | XP_016867685.1:p.Arg475Cys | |
| NM_000238.4:c.1600C>T MANE Select | NP_000229.1:p.Arg534Cys | |
| NM_001204798.2:c.580C>T | NP_001191727.1:p.Arg194Cys | |
| NM_172057.3:c.580C>T | NP_742054.1:p.Arg194Cys |