Linked Data
ClinVar Variation Id:
2502075
ClinVar RCV Id:
RCV003228494
dbSNP Id:
rs946850660
gnomAD v4:
2-39022885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022885C>T , CM000664.2:g.39022885C>T | GRCh38 |
| NC_000002.11:g.39250026C>T , CM000664.1:g.39250026C>T | GRCh37 |
| NC_000002.10:g.39103530C>T | NCBI36 |
| NG_007530.1:g.102579G>A , LRG_754:g.102579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1423G>A | ||
| ENST00000685279.1:c.310G>A | ENSP00000509424.1:p.Glu104Lys | |
| ENST00000688043.1:n.1764G>A | ||
| ENST00000689668.1:n.1550G>A | ||
| ENST00000690876.1:c.1432G>A | ENSP00000508955.1:p.Glu478Lys | |
| ENST00000691229.1:c.1432G>A | ENSP00000510437.1:p.Glu478Lys | |
| ENST00000692089.1:c.1432G>A | ENSP00000508626.1:p.Glu478Lys | |
| ENST00000692620.1:c.310G>A | ENSP00000509311.1:p.Glu104Lys | |
| ENST00000402219.8:c.1543G>A MANE Select | ENSP00000384675.2:p.Glu515Lys | |
| ENST00000395038.6:c.1543G>A | ENSP00000378479.2:p.Glu515Lys | |
| ENST00000402219.6:c.1543G>A | ENSP00000384675.2:p.Glu515Lys | |
| ENST00000426016.5:c.1543G>A | ENSP00000387784.1:p.Glu515Lys | |
| ENST00000472480.1:n.387G>A | ||
| NM_005633.3:c.1543G>A , LRG_754t1:c.1543G>A | NP_005624.2:p.Glu515Lys | |
| XM_005264515.3:c.1543G>A | XP_005264572.1:p.Glu515Lys | |
| XM_011533060.1:c.1636G>A | XP_011531362.1:p.Glu546Lys | |
| XM_011533061.1:c.1636G>A | XP_011531363.1:p.Glu546Lys | |
| XM_011533062.1:c.1522G>A | XP_011531364.1:p.Glu508Lys | |
| XM_011533063.1:c.1519G>A | XP_011531365.1:p.Glu507Lys | |
| XM_011533064.1:c.1372G>A | XP_011531366.1:p.Glu458Lys | |
| XM_011533065.1:c.1636G>A | XP_011531367.1:p.Glu546Lys | |
| XM_011533066.1:c.478G>A | XP_011531368.1:p.Glu160Lys | |
| XM_005264515.4:c.1543G>A | XP_005264572.1:p.Glu515Lys | |
| XM_011533062.2:c.1522G>A | XP_011531364.1:p.Glu508Lys | |
| XM_011533064.2:c.1372G>A | XP_011531366.1:p.Glu458Lys | |
| NM_001382394.1:c.1522G>A | NP_001369323.1:p.Glu508Lys | |
| NM_001382395.1:c.1543G>A | NP_001369324.1:p.Glu515Lys | |
| NM_005633.4:c.1543G>A MANE Select | NP_005624.2:p.Glu515Lys |