Linked Data
ClinVar Variation Id:
5439
ClinVar RCV Id:
RCV000005772
dbSNP Id:
rs119488100
PubMed:
PMID:18625862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93777551T>A , CM000672.2:g.93777551T>A | GRCh38 |
| NC_000010.10:g.95537308T>A , CM000672.1:g.95537308T>A | GRCh37 |
| NC_000010.9:g.95527298T>A | NCBI36 |
| NG_011832.1:g.24743T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371418.9:c.365T>A MANE Select | ENSP00000360472.4:p.Ile122Lys | |
| ENST00000485458.3:n.4341T>A | ||
| ENST00000635953.1:c.365T>A | ENSP00000490058.1:p.Ile122Lys | |
| ENST00000636155.1:c.365T>A | ENSP00000490355.1:p.Ile122Lys | |
| ENST00000636232.1:c.*151T>A | ENSP00000490325.1:n.*151T>A | |
| ENST00000636754.1:c.*155T>A | ENSP00000489781.1:n.*155T>A | |
| ENST00000636946.1:c.*534T>A | ENSP00000490654.1:n.*534T>A | |
| ENST00000637037.1:c.365T>A | ENSP00000490860.1:p.Ile122Lys | |
| ENST00000637347.1:n.226T>A | ||
| ENST00000637611.1:c.365T>A | ENSP00000489682.1:p.Ile122Lys | |
| ENST00000637689.1:c.-1007T>A | ENSP00000490496.1:n.-1007T>A | |
| ENST00000637925.1:c.365T>A | ENSP00000489763.1:p.Ile122Lys | |
| ENST00000638049.1:c.*123T>A | ENSP00000490597.1:n.*123T>A | |
| ENST00000371413.4:c.365T>A | ENSP00000360467.3:p.Ile122Lys | |
| ENST00000371418.8:c.365T>A | ENSP00000360472.4:p.Ile122Lys | |
| ENST00000485458.2:n.280T>A | ||
| ENST00000627420.2:c.*78-12548T>A | ENSP00000487116.1:n.*78-12548T>A | |
| ENST00000629035.2:c.293T>A | ENSP00000486908.1:p.Ile98Lys | |
| ENST00000630047.2:c.288-12548T>A | ENSP00000485917.1:n.288-12548T>A | |
| ENST00000630184.2:c.365T>A | ENSP00000486607.1:p.Ile122Lys | |
| ENST00000630487.2:c.*155T>A | ENSP00000486859.1:n.*155T>A | |
| NM_001308275.1:c.365T>A | NP_001295204.1:p.Ile122Lys | |
| NM_001308276.1:c.288-12548T>A | NP_001295205.1:n.288-12548T>A | |
| NM_005097.2:c.365T>A | NP_005088.1:p.Ile122Lys | |
| NM_005097.3:c.365T>A | NP_005088.1:p.Ile122Lys | |
| NR_131777.1:n.633-12548T>A | ||
| XR_946213.1:n.381-526A>T | ||
| XR_946214.1:n.381-526A>T | ||
| XM_017016911.2:c.365T>A | XP_016872400.1:p.Ile122Lys | |
| XM_017016912.2:c.288-12548T>A | XP_016872401.1:n.288-12548T>A | |
| XR_002957096.1:n.1558-526A>T | ||
| NM_005097.4:c.365T>A MANE Select | NP_005088.1:p.Ile122Lys | |
| NM_001308275.2:c.365T>A | NP_001295204.1:p.Ile122Lys | |
| NM_001308276.2:c.288-12548T>A | NP_001295205.1:n.288-12548T>A | |
| NR_131777.2:n.506-12548T>A |