Linked Data
ClinVar Variation Id:
943502
ClinVar RCV Id:
RCV001213701
dbSNP Id:
rs781669869
ExAC:
7:150655225 G / A
gnomAD v2:
7-150655225-G-A
gnomAD v4:
7-150958137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958137G>A , CM000669.2:g.150958137G>A | GRCh38 |
| NC_000007.13:g.150655225G>A , CM000669.1:g.150655225G>A | GRCh37 |
| NC_000007.12:g.150286158G>A | NCBI36 |
| NG_008916.1:g.24790C>T , LRG_288:g.24790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1671C>T | ||
| ENST00000262186.10:c.838C>T MANE Select | ENSP00000262186.5:p.Arg280Cys | |
| ENST00000262186.9:c.838C>T | ENSP00000262186.5:p.Arg280Cys | |
| ENST00000430723.4:c.490C>T | ENSP00000387657.4:p.Arg164Cys | |
| ENST00000532957.5:n.1061C>T | ||
| NM_000238.3:c.838C>T , LRG_288t1:c.838C>T | NP_000229.1:p.Arg280Cys | |
| NM_172056.2:c.838C>T , LRG_288t2:c.838C>T | NP_742053.1:p.Arg280Cys | |
| XM_011516185.1:c.538C>T | XP_011514487.1:p.Arg180Cys | |
| XM_011516186.1:c.838C>T | XP_011514488.1:p.Arg280Cys | |
| XM_011516185.2:c.538C>T | XP_011514487.1:p.Arg180Cys | |
| XM_011516186.3:c.838C>T | XP_011514488.1:p.Arg280Cys | |
| XM_017012195.1:c.688C>T | XP_016867684.1:p.Arg230Cys | |
| XM_017012196.1:c.661C>T | XP_016867685.1:p.Arg221Cys | |
| NM_000238.4:c.838C>T MANE Select | NP_000229.1:p.Arg280Cys |