Linked Data
ClinVar Variation Id:
101078
ClinVar RCV Id:
RCV000087331
dbSNP Id:
rs587777201
gnomAD v4:
15-50476927-C-A
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50476927C>A , CM000677.2:g.50476927C>A | GRCh38 |
| NC_000015.9:g.50769124C>A , CM000677.1:g.50769124C>A | GRCh37 |
| NC_000015.8:g.48556416C>A | NCBI36 |
| NG_047101.1:g.57551C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307179.9:c.928C>A MANE Select | ENSP00000302239.4:p.Gln310Lys | |
| ENST00000307179.8:c.928C>A | ENSP00000302239.4:p.Gln310Lys | |
| ENST00000396444.7:c.928C>A | ENSP00000379721.3:p.Gln310Lys | |
| ENST00000425032.7:c.697C>A | ENSP00000412682.3:p.Gln233Lys | |
| ENST00000559329.5:c.928C>A | ENSP00000454003.1:p.Gln310Lys | |
| ENST00000560730.5:c.*354C>A | ENSP00000452950.1:n.*354C>A | |
| ENST00000561330.1:c.336-349C>A | ENSP00000453460.1:n.336-349C>A | |
| ENST00000625664.2:c.*594C>A | ENSP00000485810.1:n.*594C>A | |
| NM_001128610.2:c.928C>A | NP_001122082.1:p.Gln310Lys | |
| NM_001283049.1:c.697C>A | NP_001269978.1:p.Gln233Lys | |
| NM_005154.4:c.928C>A | NP_005145.3:p.Gln310Lys | |
| XM_006720761.2:c.928C>A | XP_006720824.1:p.Gln310Lys | |
| XM_006720762.2:c.928C>A | XP_006720825.1:p.Gln310Lys | |
| XM_011522193.1:c.928C>A | XP_011520495.1:p.Gln310Lys | |
| XM_011522194.1:c.928C>A | XP_011520496.1:p.Gln310Lys | |
| XM_006720761.3:c.928C>A | XP_006720824.1:p.Gln310Lys | |
| XM_006720762.3:c.928C>A | XP_006720825.1:p.Gln310Lys | |
| XM_011522193.3:c.928C>A | XP_011520495.1:p.Gln310Lys | |
| XM_017022718.1:c.928C>A | XP_016878207.1:p.Gln310Lys | |
| XM_017022719.2:c.928C>A | XP_016878208.1:p.Gln310Lys | |
| XM_017022720.2:c.928C>A | XP_016878209.1:p.Gln310Lys | |
| XM_017022721.2:c.358C>A | XP_016878210.1:p.Gln120Lys | |
| XM_017022722.1:c.358C>A | XP_016878211.1:p.Gln120Lys | |
| XM_024450098.1:c.358C>A | XP_024305866.1:p.Gln120Lys | |
| NM_005154.5:c.928C>A MANE Select | NP_005145.3:p.Gln310Lys | |
| NM_001128610.3:c.928C>A | NP_001122082.1:p.Gln310Lys | |
| NM_001283049.2:c.697C>A | NP_001269978.1:p.Gln233Lys |