Linked Data
ClinVar Variation Id:
45368
ClinVar RCV Id:
RCV000038556
RCV000540046
RCV000680313
RCV001813359
RCV002490524
RCV002345299
RCV002467553
RCV002467554
dbSNP Id:
rs367693130
ExAC:
2:39213246 T / C
gnomAD v2:
2-39213246-T-C
gnomAD v3:
2-38986105-T-C
gnomAD v4:
2-38986105-T-C
ERepo:
CA136152/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986105T>C , CM000664.2:g.38986105T>C | GRCh38 |
| NC_000002.11:g.39213246T>C , CM000664.1:g.39213246T>C | GRCh37 |
| NC_000002.10:g.39066750T>C | NCBI36 |
| NG_007530.1:g.139359A>G , LRG_754:g.139359A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2488A>G | ENSP00000509424.1:p.Lys830Glu | |
| ENST00000686849.1:n.512A>G | ||
| ENST00000690876.1:c.*1027A>G | ENSP00000508955.1:n.*1027A>G | |
| ENST00000692089.1:c.3399+1368A>G | ENSP00000508626.1:n.3399+1368A>G | |
| ENST00000692227.1:c.1162-742A>G | ENSP00000509138.1:n.1162-742A>G | |
| ENST00000402219.8:c.3721A>G MANE Select | ENSP00000384675.2:p.Lys1241Glu | |
| ENST00000395038.6:c.3676A>G | ENSP00000378479.2:p.Lys1226Glu | |
| ENST00000402219.6:c.3721A>G | ENSP00000384675.2:p.Lys1241Glu | |
| ENST00000426016.5:c.3721A>G | ENSP00000387784.1:p.Lys1241Glu | |
| ENST00000469581.1:n.464A>G | ||
| NM_005633.3:c.3721A>G , LRG_754t1:c.3721A>G | NP_005624.2:p.Lys1241Glu | |
| XM_005264515.3:c.3676A>G | XP_005264572.1:p.Lys1226Glu | |
| XM_011533060.1:c.3814A>G | XP_011531362.1:p.Lys1272Glu | |
| XM_011533061.1:c.3769A>G | XP_011531363.1:p.Lys1257Glu | |
| XM_011533062.1:c.3700A>G | XP_011531364.1:p.Lys1234Glu | |
| XM_011533063.1:c.3697A>G | XP_011531365.1:p.Lys1233Glu | |
| XM_011533064.1:c.3550A>G | XP_011531366.1:p.Lys1184Glu | |
| XM_011533065.1:c.3604-742A>G | XP_011531367.1:n.3604-742A>G | |
| XM_011533066.1:c.2656A>G | XP_011531368.1:p.Lys886Glu | |
| XM_005264515.4:c.3676A>G | XP_005264572.1:p.Lys1226Glu | |
| XM_011533062.2:c.3700A>G | XP_011531364.1:p.Lys1234Glu | |
| XM_011533064.2:c.3550A>G | XP_011531366.1:p.Lys1184Glu | |
| NM_001382394.1:c.3700A>G | NP_001369323.1:p.Lys1234Glu | |
| NM_001382395.1:c.3676A>G | NP_001369324.1:p.Lys1226Glu | |
| NM_005633.4:c.3721A>G MANE Select | NP_005624.2:p.Lys1241Glu |