Linked Data
ClinVar Variation Id:
521056
dbSNP Id:
rs765305996
ExAC:
2:233350870 A / G
gnomAD v2:
2-233350870-A-G
gnomAD v4:
2-232486160-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232486160A>G , CM000664.2:g.232486160A>G | GRCh38 |
| NC_000002.11:g.233350870A>G , CM000664.1:g.233350870A>G | GRCh37 |
| NC_000002.10:g.233059114A>G | NCBI36 |
| NG_034065.1:g.6700T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.494T>C MANE Select | ENSP00000302051.1:p.Leu165Pro | |
| ENST00000304546.5:c.494T>C | ENSP00000302051.1:p.Leu165Pro | |
| ENST00000409941.1:c.494T>C | ENSP00000386333.1:p.Leu165Pro | |
| ENST00000482346.1:n.698T>C | ||
| NM_001290787.1:c.494T>C | NP_001277716.1:p.Leu165Pro | |
| NM_004826.3:c.494T>C | NP_004817.2:p.Leu165Pro | |
| NM_004826.4:c.494T>C MANE Select | NP_004817.2:p.Leu165Pro | |
| NM_001290787.2:c.494T>C | NP_001277716.1:p.Leu165Pro |