Linked Data
ClinVar Variation Id:
544619
ClinVar RCV Id:
RCV000655816
dbSNP Id:
rs376653399
ExAC:
3:52425303 G / A
gnomAD v2:
3-52425303-G-A
gnomAD v3:
3-52391287-G-A
gnomAD v4:
3-52391287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52391287G>A , CM000665.2:g.52391287G>A | GRCh38 |
| NC_000003.11:g.52425303G>A , CM000665.1:g.52425303G>A | GRCh37 |
| NC_000003.10:g.52400343G>A | NCBI36 |
| NG_052911.1:g.79969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.9850G>A MANE Select | ENSP00000401514.2:p.Glu3284Lys | |
| ENST00000420323.6:c.9850G>A | ENSP00000401514.2:p.Glu3284Lys | |
| ENST00000480649.1:c.284G>A | ||
| ENST00000486752.5:n.10307G>A | ||
| ENST00000488988.5:n.1636G>A | ||
| ENST00000490713.5:c.550G>A | ENSP00000419071.1:p.Glu184Lys | |
| NM_015512.4:c.9850G>A | NP_056327.4:p.Glu3284Lys | |
| XM_011533577.1:c.9919G>A | XP_011531879.1:p.Glu3307Lys | |
| XM_017006129.1:c.9919G>A | XP_016861618.1:p.Glu3307Lys | |
| XM_017006130.1:c.9850G>A | XP_016861619.1:p.Glu3284Lys | |
| XM_017006131.1:c.9793G>A | XP_016861620.1:p.Glu3265Lys | |
| XM_017006132.1:c.9919G>A | XP_016861621.1:p.Glu3307Lys | |
| XR_001740098.1:n.13068G>A | ||
| XR_001740099.1:n.13068G>A | ||
| NM_015512.5:c.9850G>A MANE Select | NP_056327.4:p.Glu3284Lys |