Linked Data
ClinVar Variation Id:
529379
dbSNP Id:
rs3813227
ExAC:
2:73651967 C / A
gnomAD v2:
2-73651967-C-A
gnomAD v3:
2-73424839-C-A
gnomAD v4:
2-73424839-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73424839C>A , CM000664.2:g.73424839C>A | GRCh38 |
| NC_000002.11:g.73651967C>A , CM000664.1:g.73651967C>A | GRCh37 |
| NC_000002.10:g.73505475C>A | NCBI36 |
| NG_011690.1:g.44085C>A , LRG_741:g.44085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.724C>A | ENSP00000507671.1:p.Arg242Ser | |
| ENST00000682675.1:n.1134C>A | ||
| ENST00000682801.1:c.724C>A | ENSP00000507862.1:p.Arg242Ser | |
| ENST00000682859.1:c.724C>A | ENSP00000508222.1:p.Arg242Ser | |
| ENST00000682889.1:n.1139C>A | ||
| ENST00000683791.1:c.528C>A | ||
| ENST00000684548.1:c.724C>A | ENSP00000507421.1:p.Arg242Ser | |
| ENST00000613296.6:c.1174C>A MANE Select | ENSP00000482968.1:p.Arg392Ser | |
| ENST00000484298.5:c.1048C>A | ENSP00000478155.1:p.Arg350Ser | |
| ENST00000613296.4:c.1174C>A | ENSP00000482968.1:p.Arg392Ser | |
| ENST00000614410.4:c.1174C>A | ENSP00000479094.1:p.Arg392Ser | |
| NM_015120.4:c.1177C>A , LRG_741t1:c.1177C>A | NP_055935.4:p.Arg393Ser | |
| NM_001378454.1:c.1174C>A MANE Select | NP_001365383.1:p.Arg392Ser |