Linked Data
ClinVar Variation Id:
405343
dbSNP Id:
rs1060500663
gnomAD v3:
7-150952793-G-A
gnomAD v4:
7-150952793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952793G>A , CM000669.2:g.150952793G>A | GRCh38 |
| NC_000007.13:g.150649881G>A , CM000669.1:g.150649881G>A | GRCh37 |
| NC_000007.12:g.150280814G>A | NCBI36 |
| NG_008916.1:g.30134C>T , LRG_288:g.30134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.487C>T | ||
| ENST00000684116.1:n.82C>T | ||
| ENST00000684241.1:n.2022C>T | ||
| ENST00000262186.10:c.1189C>T MANE Select | ENSP00000262186.5:p.Arg397Cys | |
| ENST00000330883.9:c.169C>T | ENSP00000328531.4:p.Arg57Cys | |
| ENST00000262186.9:c.1189C>T | ENSP00000262186.5:p.Arg397Cys | |
| ENST00000330883.8:c.169C>T | ENSP00000328531.4:p.Arg57Cys | |
| ENST00000430723.4:c.841C>T | ENSP00000387657.4:p.Arg281Cys | |
| ENST00000461280.1:n.476C>T | ||
| ENST00000473610.5:n.494C>T | ||
| ENST00000532957.5:n.1412C>T | ||
| NM_000238.3:c.1189C>T , LRG_288t1:c.1189C>T | NP_000229.1:p.Arg397Cys | |
| NM_001204798.1:c.169C>T | NP_001191727.1:p.Arg57Cys | |
| NM_172056.2:c.1189C>T , LRG_288t2:c.1189C>T | NP_742053.1:p.Arg397Cys | |
| NM_172057.2:c.169C>T , LRG_288t3:c.169C>T | NP_742054.1:p.Arg57Cys | |
| XM_011516185.1:c.889C>T | XP_011514487.1:p.Arg297Cys | |
| XM_011516186.1:c.1189C>T | XP_011514488.1:p.Arg397Cys | |
| XM_011516185.2:c.889C>T | XP_011514487.1:p.Arg297Cys | |
| XM_011516186.3:c.1189C>T | XP_011514488.1:p.Arg397Cys | |
| XM_017012195.1:c.1039C>T | XP_016867684.1:p.Arg347Cys | |
| XM_017012196.1:c.1012C>T | XP_016867685.1:p.Arg338Cys | |
| NM_000238.4:c.1189C>T MANE Select | NP_000229.1:p.Arg397Cys | |
| NM_001204798.2:c.169C>T | NP_001191727.1:p.Arg57Cys | |
| NM_172057.3:c.169C>T | NP_742054.1:p.Arg57Cys |