Linked Data
ClinVar Variation Id:
1444367
ClinVar RCV Id:
RCV001982375
dbSNP Id:
rs1437846690
gnomAD v2:
16-66547705-C-T
gnomAD v4:
16-66513802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513802C>T , CM000678.2:g.66513802C>T | GRCh38 |
| NC_000016.9:g.66547705C>T , CM000678.1:g.66547705C>T | GRCh37 |
| NC_000016.8:g.65105206C>T | NCBI36 |
| NG_016862.1:g.41611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.460G>A | ENSP00000299697.9:p.Glu154Lys | |
| ENST00000417693.8:c.574G>A | ENSP00000407469.5:p.Glu192Lys | |
| ENST00000451102.7:c.535G>A | ENSP00000414334.4:p.Glu179Lys | |
| ENST00000527284.6:c.563-1736G>A | ||
| ENST00000527800.6:c.337G>A | ENSP00000433770.1:p.Glu113Lys | |
| ENST00000544898.6:c.628G>A MANE Select | ENSP00000440898.2:p.Glu210Lys | |
| ENST00000567357.6:c.*486G>A | ENSP00000457959.2:n.*486G>A | |
| ENST00000569718.6:c.366G>A | ENSP00000464313.2:p.Trp122Ter | |
| ENST00000620035.5:c.384G>A | ENSP00000483833.2:p.Trp128Ter | |
| ENST00000676538.1:c.211G>A | ||
| ENST00000676904.1:c.99G>A | ||
| ENST00000677296.1:n.10G>A | ||
| ENST00000677379.1:c.269G>A | ENSP00000503672.1:n.269G>A | |
| ENST00000677420.1:c.337G>A | ENSP00000504648.1:p.Glu113Lys | |
| ENST00000677555.1:c.337G>A | ENSP00000503331.1:p.Glu113Lys | |
| ENST00000677715.1:c.337G>A | ENSP00000502950.1:p.Glu113Lys | |
| ENST00000677753.1:n.10G>A | ||
| ENST00000677961.1:n.40G>A | ||
| ENST00000678015.1:c.337G>A | ENSP00000502959.1:p.Glu113Lys | |
| ENST00000678190.1:c.10G>A | ENSP00000503824.1:p.Glu4Lys | |
| ENST00000678282.1:n.10G>A | ||
| ENST00000678297.1:c.337G>A | ENSP00000503472.1:p.Glu113Lys | |
| ENST00000299697.11:c.628G>A | ENSP00000299697.8:p.Glu210Lys | |
| ENST00000417693.7:c.700G>A | ENSP00000407469.4:p.Glu234Lys | |
| ENST00000451102.6:c.754G>A | ENSP00000414334.3:p.Glu252Lys | |
| ENST00000525974.5:c.337G>A | ENSP00000434594.1:p.Glu113Lys | |
| ENST00000527284.5:c.535G>A | ENSP00000435312.1:p.Glu179Lys | |
| ENST00000527800.5:c.337G>A | ENSP00000433770.1:p.Glu113Lys | |
| ENST00000544898.5:c.628G>A | ENSP00000440898.2:p.Glu210Lys | |
| ENST00000545043.6:c.553G>A | ENSP00000438143.2:p.Glu185Lys | |
| ENST00000561527.5:n.187G>A | ||
| ENST00000561728.1:c.77G>A | ||
| ENST00000562552.5:n.444G>A | ||
| ENST00000563099.5:n.155G>A | ||
| ENST00000563369.6:c.337G>A | ENSP00000463560.1:p.Glu113Lys | |
| ENST00000563478.5:c.337G>A | ENSP00000462341.1:p.Glu113Lys | |
| ENST00000564792.1:n.283G>A | ||
| ENST00000564917.5:c.679G>A | ENSP00000455187.1:p.Glu227Lys | |
| ENST00000567357.5:c.*486G>A | ENSP00000457959.1:n.*486G>A | |
| ENST00000569718.5:c.353G>A | ||
| ENST00000620035.4:c.574G>A | ENSP00000483833.1:p.Glu192Lys | |
| NM_001172643.1:c.535G>A | NP_001166114.1:p.Glu179Lys | |
| NM_001172644.1:c.553G>A | NP_001166115.1:p.Glu185Lys | |
| NM_001172645.1:c.574G>A | NP_001166116.1:p.Glu192Lys | |
| NM_001271934.1:c.481G>A | NP_001258863.1:p.Glu161Lys | |
| NM_001271935.1:c.366G>A | NP_001258864.1:p.Trp122Ter | |
| NM_001272050.1:c.337G>A | NP_001258979.1:p.Glu113Lys | |
| NM_004614.4:c.628G>A | NP_004605.4:p.Glu210Lys | |
| NR_073520.1:n.1907G>A | ||
| NM_001172644.2:c.553G>A | NP_001166115.1:p.Glu185Lys | |
| NM_001271934.2:c.481G>A | NP_001258863.1:p.Glu161Lys | |
| NM_001272050.2:c.337G>A | NP_001258979.1:p.Glu113Lys | |
| NM_004614.5:c.628G>A MANE Select | NP_004605.4:p.Glu210Lys | |
| NR_073520.2:n.1617G>A | ||
| NM_001172645.2:c.574G>A | NP_001166116.1:p.Glu192Lys |