Linked Data
ClinVar Variation Id:
1750218
ClinVar RCV Id:
RCV002353485
dbSNP Id:
rs751756182
ExAC:
2:73828550 G / A
gnomAD v2:
2-73828550-G-A
gnomAD v4:
2-73601423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601423G>A , CM000664.2:g.73601423G>A | GRCh38 |
| NC_000002.11:g.73828550G>A , CM000664.1:g.73828550G>A | GRCh37 |
| NC_000002.10:g.73682058G>A | NCBI36 |
| NG_011690.1:g.220671G>A , LRG_741:g.220671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11720G>A | ENSP00000507671.1:p.Arg3907Lys | |
| ENST00000682801.1:c.11167-762G>A | ENSP00000507862.1:n.11167-762G>A | |
| ENST00000682859.1:c.11720G>A | ENSP00000508222.1:p.Arg3907Lys | |
| ENST00000683791.1:c.4806G>A | ||
| ENST00000684460.1:c.9001G>A | ||
| ENST00000684548.1:c.11720G>A | ENSP00000507421.1:p.Arg3907Lys | |
| ENST00000684590.1:c.6167G>A | ENSP00000507376.1:p.Arg2056Lys | |
| ENST00000684656.1:c.9185G>A | ||
| ENST00000613296.6:c.12101G>A MANE Select | ENSP00000482968.1:p.Arg4034Lys | |
| ENST00000651057.1:c.2255G>A | ENSP00000498504.1:p.Arg752Lys | |
| ENST00000651434.1:c.3457G>A | ||
| ENST00000651750.1:c.1260+542G>A | ||
| ENST00000652487.1:c.3272G>A | ||
| ENST00000464408.3:n.276G>A | ||
| ENST00000484298.5:c.11975G>A | ENSP00000478155.1:p.Arg3992Lys | |
| ENST00000613296.4:c.12101G>A | ENSP00000482968.1:p.Arg4034Lys | |
| ENST00000620466.4:n.5904G>A | ||
| NM_015120.4:c.12104G>A , LRG_741t1:c.12104G>A | NP_055935.4:p.Arg4035Lys | |
| NM_001378454.1:c.12101G>A MANE Select | NP_001365383.1:p.Arg4034Lys |