Linked Data
ClinVar Variation Id:
421399
ClinVar RCV Id:
RCV001856855
dbSNP Id:
rs1064795112
gnomAD v4:
2-227688227-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227688227T>C , CM000664.2:g.227688227T>C | GRCh38 |
| NC_000002.11:g.228552943T>C , CM000664.1:g.228552943T>C | GRCh37 |
| NC_000002.10:g.228261187T>C | NCBI36 |
| NG_016359.1:g.34803A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258403.8:c.1253A>G | ENSP00000258403.3:p.Gln418Arg | |
| ENST00000425817.6:c.*1278A>G | ENSP00000397393.2:n.*1278A>G | |
| ENST00000431622.6:c.*1278A>G | ENSP00000400627.1:n.*1278A>G | |
| ENST00000642268.1:n.1443A>G | ||
| ENST00000644224.2:c.1253A>G MANE Select | ENSP00000495385.1:p.Gln418Arg | |
| ENST00000645700.1:c.*364A>G | ENSP00000495372.1:n.*364A>G | |
| ENST00000645923.1:c.*447A>G | ENSP00000495010.1:n.*447A>G | |
| ENST00000646591.1:c.1289A>G | ENSP00000496701.1:p.Gln430Arg | |
| ENST00000647113.1:c.*241A>G | ENSP00000494966.1:n.*241A>G | |
| ENST00000676066.1:n.983A>G | ||
| ENST00000258403.7:c.1253A>G | ENSP00000258403.3:p.Gln418Arg | |
| ENST00000409287.5:c.260-2058A>G | ENSP00000386298.1:n.260-2058A>G | |
| ENST00000425817.5:c.1253A>G | ENSP00000397393.1:p.Gln418Arg | |
| NM_025243.3:c.1253A>G | NP_079519.1:p.Gln418Arg | |
| XM_005246874.2:c.1241A>G | XP_005246931.1:p.Gln414Arg | |
| XM_006712779.2:c.1268A>G | XP_006712842.1:p.Gln423Arg | |
| XM_011511931.1:c.1289A>G | XP_011510233.1:p.Gln430Arg | |
| XM_011511932.1:c.1253A>G | XP_011510234.1:p.Gln418Arg | |
| XM_011511933.1:c.1253A>G | XP_011510235.1:p.Gln418Arg | |
| XM_005246874.3:c.1241A>G | XP_005246931.1:p.Gln414Arg | |
| XM_011511931.2:c.1289A>G | XP_011510233.1:p.Gln430Arg | |
| XM_017005030.1:c.1493A>G | XP_016860519.1:p.Gln498Arg | |
| XM_017005031.1:c.1472A>G | XP_016860520.1:p.Gln491Arg | |
| XM_017005032.1:c.1457A>G | XP_016860521.1:p.Gln486Arg | |
| XM_017005033.1:c.1457A>G | XP_016860522.1:p.Gln486Arg | |
| XM_017005034.2:c.1457A>G | XP_016860523.1:p.Gln486Arg | |
| NM_025243.4:c.1253A>G MANE Select | NP_079519.1:p.Gln418Arg | |
| NM_001371411.1:c.1253A>G | NP_001358340.1:p.Gln418Arg | |
| NM_001371412.1:c.1253A>G | NP_001358341.1:p.Gln418Arg | |
| NM_001371413.1:c.1241A>G | NP_001358342.1:p.Gln414Arg | |
| NM_001371414.1:c.1241A>G | NP_001358343.1:p.Gln414Arg |