Linked Data
ClinVar Variation Id:
938736
ClinVar RCV Id:
RCV001208014
dbSNP Id:
rs762191660
ExAC:
3:38888327 C / T
gnomAD v2:
3-38888327-C-T
gnomAD v3:
3-38846836-C-T
gnomAD v4:
3-38846836-C-T
COSMIC:
COSM1294101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846836C>T , CM000665.2:g.38846836C>T | GRCh38 |
| NC_000003.11:g.38888327C>T , CM000665.1:g.38888327C>T | GRCh37 |
| NC_000003.10:g.38863331C>T | NCBI36 |
| NG_033859.1:g.108726G>A | |
| NG_033859.2:g.210151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5234G>A MANE Select | ENSP00000307599.3:p.Arg1745Gln | |
| ENST00000668754.1:c.5234G>A | ENSP00000499569.1:p.Arg1745Gln | |
| ENST00000675223.1:c.5313G>A | ENSP00000502481.1:n.5313G>A | |
| ENST00000675672.1:c.5288G>A | ENSP00000502446.1:n.5288G>A | |
| ENST00000675892.1:c.5054G>A | ENSP00000502318.1:p.Arg1685Gln | |
| ENST00000676045.1:c.5278G>A | ENSP00000501685.1:n.5278G>A | |
| ENST00000676176.1:c.4853G>A | ENSP00000501891.1:p.Arg1618Gln | |
| ENST00000302328.7:c.5234G>A | ENSP00000307599.3:p.Arg1745Gln | |
| ENST00000456224.7:c.5120G>A | ENSP00000416757.3:p.Arg1707Gln | |
| NM_001287223.1:c.5234G>A | NP_001274152.1:p.Arg1745Gln | |
| NM_014139.2:c.5234G>A | NP_054858.2:p.Arg1745Gln | |
| XM_011533320.1:c.5234G>A | XP_011531622.1:p.Arg1745Gln | |
| XM_011533321.1:c.4571G>A | XP_011531623.1:p.Arg1524Gln | |
| XM_011533322.1:c.3782G>A | XP_011531624.1:p.Arg1261Gln | |
| NM_001349253.1:c.5234G>A | NP_001336182.1:p.Arg1745Gln | |
| XM_011533321.2:c.4571G>A | XP_011531623.1:p.Arg1524Gln | |
| XM_017005647.1:c.5609G>A | XP_016861136.1:p.Arg1870Gln | |
| XM_017005648.1:c.5036G>A | XP_016861137.1:p.Arg1679Gln | |
| XM_017005650.1:c.5234G>A | XP_016861139.1:p.Arg1745Gln | |
| XM_017005651.1:c.4961G>A | XP_016861140.1:p.Arg1654Gln | |
| XM_017005653.1:c.3638G>A | XP_016861142.1:p.Arg1213Gln | |
| NM_001349253.2:c.5234G>A MANE Select | NP_001336182.1:p.Arg1745Gln | |
| NM_014139.3:c.5234G>A | NP_054858.2:p.Arg1745Gln |