Linked Data
ClinVar Variation Id:
242462
dbSNP Id:
rs781156571
ExAC:
3:128627047 G / A
gnomAD v2:
3-128627047-G-A
gnomAD v3:
3-128908204-G-A
gnomAD v4:
3-128908204-G-A
COSMIC:
COSM1418781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128908204G>A , CM000665.2:g.128908204G>A | GRCh38 |
| NC_000003.11:g.128627047G>A , CM000665.1:g.128627047G>A | GRCh37 |
| NC_000003.10:g.130109737G>A | NCBI36 |
| NG_017064.1:g.33715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.1298G>A MANE Select | ENSP00000312618.7:p.Arg433Gln | |
| ENST00000511325.2:n.1376G>A | ||
| ENST00000679399.1:c.*1469G>A | ENSP00000505434.1:n.*1469G>A | |
| ENST00000679431.1:c.*1174G>A | ENSP00000506440.1:n.*1174G>A | |
| ENST00000679613.1:c.1298G>A | ENSP00000504971.1:p.Arg433Gln | |
| ENST00000679715.1:c.929G>A | ENSP00000506228.1:p.Arg310Gln | |
| ENST00000679824.1:c.*2604G>A | ENSP00000505516.1:n.*2604G>A | |
| ENST00000679990.1:n.1533G>A | ||
| ENST00000680636.1:c.1298G>A | ENSP00000504886.1:p.Arg433Gln | |
| ENST00000680638.1:n.343G>A | ||
| ENST00000680744.1:c.*651G>A | ENSP00000505243.1:n.*651G>A | |
| ENST00000680764.1:c.*2702G>A | ENSP00000505126.1:n.*2702G>A | |
| ENST00000681319.1:n.1376G>A | ||
| ENST00000681367.1:c.1298G>A | ENSP00000505309.1:p.Arg433Gln | |
| ENST00000681552.1:c.1149+3699G>A | ENSP00000505699.1:n.1149+3699G>A | |
| ENST00000681583.1:c.1298G>A | ENSP00000506340.1:p.Arg433Gln | |
| ENST00000681585.1:c.1298G>A | ENSP00000506316.1:p.Arg433Gln | |
| ENST00000681784.1:n.1376G>A | ||
| ENST00000681886.1:c.*491G>A | ENSP00000506500.1:n.*491G>A | |
| ENST00000308982.11:c.1298G>A | ENSP00000312618.7:p.Arg433Gln | |
| ENST00000505192.5:c.*994G>A | ENSP00000426277.1:n.*994G>A | |
| ENST00000505867.5:c.*1098G>A | ENSP00000425346.1:n.*1098G>A | |
| ENST00000508971.1:c.587G>A | ENSP00000422683.1:p.Arg196Gln | |
| ENST00000511227.5:c.*1192G>A | ENSP00000425226.1:n.*1192G>A | |
| ENST00000511325.1:n.279G>A | ||
| ENST00000511526.5:n.831G>A | ||
| NM_014049.4:c.1298G>A | NP_054768.2:p.Arg433Gln | |
| NR_033426.1:n.1676G>A | ||
| XM_011512742.1:c.929G>A | XP_011511044.1:p.Arg310Gln | |
| XR_427367.1:n.1374G>A | ||
| XM_024453484.1:c.929G>A | XP_024309252.1:p.Arg310Gln | |
| XM_024453485.1:c.929G>A | XP_024309253.1:p.Arg310Gln | |
| XR_427367.3:n.1374G>A | ||
| NM_014049.5:c.1298G>A MANE Select | NP_054768.2:p.Arg433Gln | |
| NR_033426.2:n.1546G>A |