Linked Data
ClinVar Variation Id:
1028924
ClinVar RCV Id:
RCV001330105
dbSNP Id:
rs1393222137
gnomAD v3:
2-39022747-C-T
gnomAD v4:
2-39022747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022747C>T , CM000664.2:g.39022747C>T | GRCh38 |
| NC_000002.11:g.39249888C>T , CM000664.1:g.39249888C>T | GRCh37 |
| NC_000002.10:g.39103392C>T | NCBI36 |
| NG_007530.1:g.102717G>A , LRG_754:g.102717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1561G>A | ||
| ENST00000685279.1:c.448G>A | ENSP00000509424.1:p.Glu150Lys | |
| ENST00000688043.1:n.1902G>A | ||
| ENST00000689668.1:n.1688G>A | ||
| ENST00000690876.1:c.1570G>A | ENSP00000508955.1:p.Glu524Lys | |
| ENST00000691229.1:c.1570G>A | ENSP00000510437.1:p.Glu524Lys | |
| ENST00000692089.1:c.1570G>A | ENSP00000508626.1:p.Glu524Lys | |
| ENST00000692620.1:c.448G>A | ENSP00000509311.1:p.Glu150Lys | |
| ENST00000402219.8:c.1681G>A MANE Select | ENSP00000384675.2:p.Glu561Lys | |
| ENST00000395038.6:c.1681G>A | ENSP00000378479.2:p.Glu561Lys | |
| ENST00000402219.6:c.1681G>A | ENSP00000384675.2:p.Glu561Lys | |
| ENST00000426016.5:c.1681G>A | ENSP00000387784.1:p.Glu561Lys | |
| NM_005633.3:c.1681G>A , LRG_754t1:c.1681G>A | NP_005624.2:p.Glu561Lys | |
| XM_005264515.3:c.1681G>A | XP_005264572.1:p.Glu561Lys | |
| XM_011533060.1:c.1774G>A | XP_011531362.1:p.Glu592Lys | |
| XM_011533061.1:c.1774G>A | XP_011531363.1:p.Glu592Lys | |
| XM_011533062.1:c.1660G>A | XP_011531364.1:p.Glu554Lys | |
| XM_011533063.1:c.1657G>A | XP_011531365.1:p.Glu553Lys | |
| XM_011533064.1:c.1510G>A | XP_011531366.1:p.Glu504Lys | |
| XM_011533065.1:c.1774G>A | XP_011531367.1:p.Glu592Lys | |
| XM_011533066.1:c.616G>A | XP_011531368.1:p.Glu206Lys | |
| XM_005264515.4:c.1681G>A | XP_005264572.1:p.Glu561Lys | |
| XM_011533062.2:c.1660G>A | XP_011531364.1:p.Glu554Lys | |
| XM_011533064.2:c.1510G>A | XP_011531366.1:p.Glu504Lys | |
| NM_001382394.1:c.1660G>A | NP_001369323.1:p.Glu554Lys | |
| NM_001382395.1:c.1681G>A | NP_001369324.1:p.Glu561Lys | |
| NM_005633.4:c.1681G>A MANE Select | NP_005624.2:p.Glu561Lys |