Linked Data
ClinVar Variation Id:
581266
dbSNP Id:
rs79624542
gnomAD v2:
7-150648119-G-A
gnomAD v3:
7-150951031-G-A
gnomAD v4:
7-150951031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951031G>A , CM000669.2:g.150951031G>A | GRCh38 |
| NC_000007.13:g.150648119G>A , CM000669.1:g.150648119G>A | GRCh37 |
| NC_000007.12:g.150279052G>A | NCBI36 |
| NG_008916.1:g.31896C>T , LRG_288:g.31896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1333C>T | ||
| ENST00000683359.1:n.159C>T | ||
| ENST00000684241.1:n.2868C>T | ||
| ENST00000262186.10:c.2035C>T MANE Select | ENSP00000262186.5:p.Arg679Trp | |
| ENST00000330883.9:c.1015C>T | ENSP00000328531.4:p.Arg339Trp | |
| ENST00000262186.9:c.2035C>T | ENSP00000262186.5:p.Arg679Trp | |
| ENST00000330883.8:c.1015C>T | ENSP00000328531.4:p.Arg339Trp | |
| ENST00000430723.4:c.1687C>T | ENSP00000387657.4:p.Arg563Trp | |
| ENST00000461280.1:n.1322C>T | ||
| ENST00000473610.5:n.1667C>T | ||
| ENST00000532957.5:n.2258C>T | ||
| NM_000238.3:c.2035C>T , LRG_288t1:c.2035C>T | NP_000229.1:p.Arg679Trp | |
| NM_001204798.1:c.1015C>T | NP_001191727.1:p.Arg339Trp | |
| NM_172056.2:c.2035C>T , LRG_288t2:c.2035C>T | NP_742053.1:p.Arg679Trp | |
| NM_172057.2:c.1015C>T , LRG_288t3:c.1015C>T | NP_742054.1:p.Arg339Trp | |
| XM_011516185.1:c.1735C>T | XP_011514487.1:p.Arg579Trp | |
| XM_011516186.1:c.2035C>T | XP_011514488.1:p.Arg679Trp | |
| XM_011516185.2:c.1735C>T | XP_011514487.1:p.Arg579Trp | |
| XM_011516186.3:c.2035C>T | XP_011514488.1:p.Arg679Trp | |
| XM_017012195.1:c.1885C>T | XP_016867684.1:p.Arg629Trp | |
| XM_017012196.1:c.1858C>T | XP_016867685.1:p.Arg620Trp | |
| NM_000238.4:c.2035C>T MANE Select | NP_000229.1:p.Arg679Trp | |
| NM_001204798.2:c.1015C>T | NP_001191727.1:p.Arg339Trp | |
| NM_172057.3:c.1015C>T | NP_742054.1:p.Arg339Trp |