Linked Data
ClinVar Variation Id:
1346187
ClinVar RCV Id:
RCV002029877
dbSNP Id:
rs765683730
ExAC:
1:94522365 A / G
gnomAD v2:
1-94522365-A-G
gnomAD v4:
1-94056809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056809A>G , CM000663.2:g.94056809A>G | GRCh38 |
| NC_000001.10:g.94522365A>G , CM000663.1:g.94522365A>G | GRCh37 |
| NC_000001.9:g.94294953A>G | NCBI36 |
| NG_009073.1:g.69341T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2174T>C MANE Select | ENSP00000359245.3:p.Leu725Pro | |
| ENST00000649773.1:c.2161-1494T>C | ENSP00000496882.1:n.2161-1494T>C | |
| ENST00000370225.3:c.2174T>C | ENSP00000359245.3:p.Leu725Pro | |
| ENST00000536513.5:c.-65+6365T>C | ENSP00000439707.2:n.-65+6365T>C | |
| NM_000350.2:c.2174T>C | NP_000341.2:p.Leu725Pro | |
| NM_000350.3:c.2174T>C MANE Select | NP_000341.2:p.Leu725Pro |