Linked Data
ClinVar Variation Id:
383313
ClinVar RCV Id:
RCV001406340
dbSNP Id:
rs199988442
ExAC:
1:78390893 G / A
gnomAD v2:
1-78390893-G-A
gnomAD v3:
1-77925208-G-A
gnomAD v4:
1-77925208-G-A
COSMIC:
COSM3692060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77925208G>A , CM000663.2:g.77925208G>A | GRCh38 |
| NC_000001.10:g.78390893G>A , CM000663.1:g.78390893G>A | GRCh37 |
| NC_000001.9:g.78163481G>A | NCBI36 |
| NG_016625.1:g.41694G>A , LRG_442:g.41694G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.468G>A MANE Select | ENSP00000333938.7:p.Thr156= | |
| ENST00000330010.12:c.276G>A | ENSP00000327363.8:p.Thr92= | |
| ENST00000334785.11:c.468G>A | ENSP00000333938.7:p.Thr156= | |
| ENST00000342754.5:c.167G>A | ||
| ENST00000401035.7:c.276G>A | ENSP00000383814.3:p.Thr92= | |
| ENST00000440324.5:c.448-1206G>A | ENSP00000411902.1:n.448-1206G>A | |
| NM_001172309.1:c.276G>A | NP_001165780.1:p.Thr92= | |
| NM_144573.3:c.468G>A , LRG_442t1:c.468G>A | NP_653174.3:p.Thr156= | |
| XM_005271322.2:c.468G>A | XP_005271379.1:p.Thr156= | |
| XM_005271323.2:c.448-1206G>A | XP_005271380.1:n.448-1206G>A | |
| XM_005271324.3:c.276G>A | XP_005271381.1:p.Thr92= | |
| XM_005271325.2:c.468G>A | XP_005271382.1:p.Thr156= | |
| XM_005271326.2:c.256-1206G>A | XP_005271383.1:n.256-1206G>A | |
| XM_005271327.2:c.448-4108G>A | XP_005271384.1:n.448-4108G>A | |
| XM_005271322.4:c.468G>A | XP_005271379.1:p.Thr156= | |
| XM_005271323.4:c.448-1206G>A | XP_005271380.1:n.448-1206G>A | |
| XM_005271324.5:c.276G>A | XP_005271381.1:p.Thr92= | |
| XM_005271325.4:c.468G>A | XP_005271382.1:p.Thr156= | |
| XM_005271326.4:c.256-1206G>A | XP_005271383.1:n.256-1206G>A | |
| XM_005271327.4:c.448-4108G>A | XP_005271384.1:n.448-4108G>A | |
| NM_001172309.2:c.276G>A | NP_001165780.1:p.Thr92= | |
| NM_144573.4:c.468G>A MANE Select | NP_653174.3:p.Thr156= |