Linked Data
ClinVar Variation Id:
12880
ClinVar RCV Id:
RCV000013740
RCV000189142
RCV001218692
RCV001260972
RCV001265327
RCV001847598
RCV001847599
RCV003155910
dbSNP Id:
rs121917753
gnomAD v4:
2-165373331-G-A
PubMed:
PMID:15048894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165373331G>A , CM000664.2:g.165373331G>A | GRCh38 |
| NC_000002.11:g.166229841G>A , CM000664.1:g.166229841G>A | GRCh37 |
| NC_000002.10:g.165938087G>A | NCBI36 |
| NG_008143.1:g.138930G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000631182.3:c.3956G>A MANE Plus Clinical | ENSP00000486885.1:p.Arg1319Gln | |
| ENST00000375437.7:c.3956G>A MANE Select | ENSP00000364586.2:p.Arg1319Gln | |
| ENST00000636071.2:c.3956G>A | ENSP00000490107.1:p.Arg1319Gln | |
| ENST00000636135.1:c.*2275G>A | ENSP00000489821.1:n.*2275G>A | |
| ENST00000636384.2:c.*1943G>A | ENSP00000490765.1:n.*1943G>A | |
| ENST00000636662.2:c.*4479G>A | ENSP00000489873.1:n.*4479G>A | |
| ENST00000636769.1:c.*1898G>A | ENSP00000490800.1:n.*1898G>A | |
| ENST00000636985.2:c.3560G>A | ENSP00000490849.1:p.Arg1187Gln | |
| ENST00000637266.2:c.3956G>A | ENSP00000490866.1:p.Arg1319Gln | |
| ENST00000283256.10:c.3956G>A | ENSP00000283256.6:p.Arg1319Gln | |
| ENST00000375427.4:c.3956G>A | ENSP00000364576.2:p.Arg1319Gln | |
| ENST00000375437.6:c.3956G>A | ENSP00000364586.2:p.Arg1319Gln | |
| ENST00000480032.4:n.7024G>A | ||
| ENST00000631182.2:c.3956G>A | ENSP00000486885.1:p.Arg1319Gln | |
| NM_001040142.1:c.3956G>A | NP_001035232.1:p.Arg1319Gln | |
| NM_001040143.1:c.3956G>A | NP_001035233.1:p.Arg1319Gln | |
| NM_021007.2:c.3956G>A | NP_066287.2:p.Arg1319Gln | |
| XM_005246750.2:c.3956G>A | XP_005246807.1:p.Arg1319Gln | |
| XM_005246753.2:c.3956G>A | XP_005246810.1:p.Arg1319Gln | |
| XM_005246754.3:c.3926G>A | XP_005246811.1:p.Arg1309Gln | |
| XM_005246755.3:c.3203G>A | XP_005246812.1:p.Arg1068Gln | |
| XM_011511608.1:c.3956G>A | XP_011509910.1:p.Arg1319Gln | |
| XM_011511609.1:c.3956G>A | XP_011509911.1:p.Arg1319Gln | |
| XM_005246753.3:c.3956G>A | XP_005246810.1:p.Arg1319Gln | |
| XM_017004656.1:c.3956G>A | XP_016860145.1:p.Arg1319Gln | |
| XM_017004657.1:c.3956G>A | XP_016860146.1:p.Arg1319Gln | |
| XM_017004658.1:c.3203G>A | XP_016860147.1:p.Arg1068Gln | |
| XM_017004659.1:c.1754G>A | XP_016860148.1:p.Arg585Gln | |
| XM_024453037.1:c.3203G>A | XP_024308805.1:p.Arg1068Gln | |
| NM_001040142.2:c.3956G>A MANE Select | NP_001035232.1:p.Arg1319Gln | |
| NM_001040143.2:c.3956G>A | NP_001035233.1:p.Arg1319Gln | |
| NM_001371246.1:c.3956G>A MANE Plus Clinical | NP_001358175.1:p.Arg1319Gln | |
| NM_001371247.1:c.3956G>A | NP_001358176.1:p.Arg1319Gln | |
| NM_021007.3:c.3956G>A | NP_066287.2:p.Arg1319Gln |