Linked Data
ClinVar Variation Id:
1942581
ClinVar RCV Id:
RCV002653838
dbSNP Id:
rs1018467066
gnomAD v2:
17-1554436-G-A
gnomAD v4:
17-1651142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651142G>A , CM000679.2:g.1651142G>A | GRCh38 |
| NC_000017.10:g.1554436G>A , CM000679.1:g.1554436G>A | GRCh37 |
| NC_000017.9:g.1501186G>A | NCBI36 |
| NG_009118.1:g.38741C>T | |
| NG_033061.1:g.3957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6639C>T | ENSP00000460849.2:p.Val2213= | |
| ENST00000703537.1:c.2567C>T | ||
| ENST00000703538.1:c.*6542C>T | ENSP00000515361.1:n.*6542C>T | |
| ENST00000703539.1:n.3133C>T | ||
| ENST00000703540.1:c.6672C>T | ENSP00000515362.1:p.Val2224= | |
| ENST00000703541.1:c.6684C>T | ENSP00000515363.1:p.Val2228= | |
| ENST00000304992.11:c.6819C>T MANE Select | ENSP00000304350.6:p.Val2273= | |
| ENST00000304992.10:c.6819C>T | ENSP00000304350.6:p.Val2273= | |
| ENST00000571958.1:c.128C>T | ||
| ENST00000572621.5:c.6819C>T | ENSP00000460348.1:p.Val2273= | |
| ENST00000572723.1:n.808C>T | ||
| NM_006445.3:c.6819C>T | NP_006436.3:p.Val2273= | |
| XM_024450537.1:c.6819C>T | XP_024306305.1:p.Val2273= | |
| NM_006445.4:c.6819C>T MANE Select | NP_006436.3:p.Val2273= |