Linked Data
ClinVar Variation Id:
2803610
ClinVar RCV Id:
RCV003681599
dbSNP Id:
rs1911039862
gnomAD v4:
17-1651255-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651255C>T , CM000679.2:g.1651255C>T | GRCh38 |
| NC_000017.10:g.1554549C>T , CM000679.1:g.1554549C>T | GRCh37 |
| NC_000017.9:g.1501299C>T | NCBI36 |
| NG_009118.1:g.38628G>A | |
| NG_033061.1:g.3844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6526G>A | ENSP00000460849.2:p.Glu2176Lys | |
| ENST00000703537.1:c.2454G>A | ||
| ENST00000703538.1:c.*6429G>A | ENSP00000515361.1:n.*6429G>A | |
| ENST00000703539.1:n.3020G>A | ||
| ENST00000703540.1:c.6559G>A | ENSP00000515362.1:p.Glu2187Lys | |
| ENST00000703541.1:c.6571G>A | ENSP00000515363.1:p.Glu2191Lys | |
| ENST00000304992.11:c.6706G>A MANE Select | ENSP00000304350.6:p.Glu2236Lys | |
| ENST00000304992.10:c.6706G>A | ENSP00000304350.6:p.Glu2236Lys | |
| ENST00000571958.1:c.15G>A | ||
| ENST00000572621.5:c.6706G>A | ENSP00000460348.1:p.Glu2236Lys | |
| ENST00000572723.1:n.695G>A | ||
| NM_006445.3:c.6706G>A | NP_006436.3:p.Glu2236Lys | |
| XM_024450537.1:c.6706G>A | XP_024306305.1:p.Glu2236Lys | |
| NM_006445.4:c.6706G>A MANE Select | NP_006436.3:p.Glu2236Lys |