Linked Data
ClinVar Variation Id:
242461
dbSNP Id:
rs150283105
ExAC:
3:128628253 C / T
gnomAD v2:
3-128628253-C-T
gnomAD v3:
3-128909410-C-T
gnomAD v4:
3-128909410-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128909410C>T , CM000665.2:g.128909410C>T | GRCh38 |
| NC_000003.11:g.128628253C>T , CM000665.1:g.128628253C>T | GRCh37 |
| NC_000003.10:g.130110943C>T | NCBI36 |
| NG_017064.1:g.34921C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308982.12:c.1552C>T MANE Select | ENSP00000312618.7:p.Arg518Cys | |
| ENST00000511325.2:n.1630C>T | ||
| ENST00000679399.1:c.*1723C>T | ENSP00000505434.1:n.*1723C>T | |
| ENST00000679431.1:c.*1428C>T | ENSP00000506440.1:n.*1428C>T | |
| ENST00000679613.1:c.1552C>T | ENSP00000504971.1:p.Arg518Cys | |
| ENST00000679715.1:c.1183C>T | ENSP00000506228.1:p.Arg395Cys | |
| ENST00000679824.1:c.*2858C>T | ENSP00000505516.1:n.*2858C>T | |
| ENST00000679990.1:n.1787C>T | ||
| ENST00000680636.1:c.1552C>T | ENSP00000504886.1:p.Arg518Cys | |
| ENST00000680638.1:n.1305C>T | ||
| ENST00000680744.1:c.*905C>T | ENSP00000505243.1:n.*905C>T | |
| ENST00000680764.1:c.*2956C>T | ENSP00000505126.1:n.*2956C>T | |
| ENST00000681319.1:n.2338C>T | ||
| ENST00000681367.1:c.1552C>T | ENSP00000505309.1:p.Arg518Cys | |
| ENST00000681552.1:c.1150-3097C>T | ENSP00000505699.1:n.1150-3097C>T | |
| ENST00000681583.1:c.1552C>T | ENSP00000506340.1:p.Arg518Cys | |
| ENST00000681585.1:c.*171C>T | ENSP00000506316.1:n.*171C>T | |
| ENST00000681784.1:n.1630C>T | ||
| ENST00000681886.1:c.*745C>T | ENSP00000506500.1:n.*745C>T | |
| ENST00000308982.11:c.1552C>T | ENSP00000312618.7:p.Arg518Cys | |
| ENST00000505867.5:c.*1352C>T | ENSP00000425346.1:n.*1352C>T | |
| ENST00000508971.1:c.841C>T | ENSP00000422683.1:p.Arg281Cys | |
| ENST00000511227.5:c.*1446C>T | ENSP00000425226.1:n.*1446C>T | |
| ENST00000511325.1:n.533C>T | ||
| ENST00000511526.5:n.1085C>T | ||
| NM_014049.4:c.1552C>T | NP_054768.2:p.Arg518Cys | |
| NR_033426.1:n.1930C>T | ||
| XM_011512742.1:c.1183C>T | XP_011511044.1:p.Arg395Cys | |
| XM_024453484.1:c.1183C>T | XP_024309252.1:p.Arg395Cys | |
| XM_024453485.1:c.1183C>T | XP_024309253.1:p.Arg395Cys | |
| XR_427367.3:n.1628C>T | ||
| NM_014049.5:c.1552C>T MANE Select | NP_054768.2:p.Arg518Cys | |
| NR_033426.2:n.1800C>T |