Linked Data
ClinVar Variation Id:
67391
ClinVar RCV Id:
RCV000058113
RCV000148535
RCV000586962
RCV000618893
RCV001162548
RCV001778698
RCV001841708
RCV002228167
dbSNP Id:
rs138498207
ExAC:
7:150647283 G / A
gnomAD v2:
7-150647283-G-A
gnomAD v3:
7-150950195-G-A
gnomAD v4:
7-150950195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950195G>A , CM000669.2:g.150950195G>A | GRCh38 |
| NC_000007.13:g.150647283G>A , CM000669.1:g.150647283G>A | GRCh37 |
| NC_000007.12:g.150278216G>A | NCBI36 |
| NG_008916.1:g.32732C>T , LRG_288:g.32732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1669C>T | ||
| ENST00000684241.1:n.3204C>T | ||
| ENST00000262186.10:c.2371C>T MANE Select | ENSP00000262186.5:p.Arg791Trp | |
| ENST00000330883.9:c.1351C>T | ENSP00000328531.4:p.Arg451Trp | |
| ENST00000262186.9:c.2371C>T | ENSP00000262186.5:p.Arg791Trp | |
| ENST00000330883.8:c.1351C>T | ENSP00000328531.4:p.Arg451Trp | |
| ENST00000430723.4:c.2023C>T | ENSP00000387657.4:p.Arg675Trp | |
| ENST00000461280.1:n.1658C>T | ||
| ENST00000473610.5:n.2003C>T | ||
| ENST00000532957.5:n.2594C>T | ||
| NM_000238.3:c.2371C>T , LRG_288t1:c.2371C>T | NP_000229.1:p.Arg791Trp | |
| NM_001204798.1:c.1351C>T | NP_001191727.1:p.Arg451Trp | |
| NM_172056.2:c.2371C>T , LRG_288t2:c.2371C>T | NP_742053.1:p.Arg791Trp | |
| NM_172057.2:c.1351C>T , LRG_288t3:c.1351C>T | NP_742054.1:p.Arg451Trp | |
| XM_011516185.1:c.2071C>T | XP_011514487.1:p.Arg691Trp | |
| XM_011516186.1:c.2371C>T | XP_011514488.1:p.Arg791Trp | |
| XM_011516185.2:c.2071C>T | XP_011514487.1:p.Arg691Trp | |
| XM_011516186.3:c.2371C>T | XP_011514488.1:p.Arg791Trp | |
| XM_017012195.1:c.2221C>T | XP_016867684.1:p.Arg741Trp | |
| XM_017012196.1:c.2194C>T | XP_016867685.1:p.Arg732Trp | |
| NM_000238.4:c.2371C>T MANE Select | NP_000229.1:p.Arg791Trp | |
| NM_001204798.2:c.1351C>T | NP_001191727.1:p.Arg451Trp | |
| NM_172057.3:c.1351C>T | NP_742054.1:p.Arg451Trp |