Linked Data
ClinVar Variation Id:
462752
dbSNP Id:
rs752668844
ExAC:
1:193218993 A / G
gnomAD v2:
1-193218993-A-G
gnomAD v3:
1-193249863-A-G
gnomAD v4:
1-193249863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193249863A>G , CM000663.2:g.193249863A>G | GRCh38 |
| NC_000001.10:g.193218993A>G , CM000663.1:g.193218993A>G | GRCh37 |
| NC_000001.9:g.191485616A>G | NCBI36 |
| NG_012691.1:g.132906A>G , LRG_507:g.132906A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1551A>G MANE Select | ENSP00000356405.4:p.Thr517= | |
| ENST00000635846.1:c.1308A>G | ENSP00000490035.1:p.Thr436= | |
| ENST00000643006.1:c.*461A>G | ENSP00000496633.1:n.*461A>G | |
| ENST00000648071.1:c.*1527A>G | ENSP00000497513.1:n.*1527A>G | |
| ENST00000649613.1:n.801A>G | ||
| ENST00000650197.1:c.*249A>G | ENSP00000496929.1:n.*249A>G | |
| ENST00000367435.3:c.1551A>G | ENSP00000356405.3:p.Thr517= | |
| ENST00000477868.1:n.263A>G | ||
| NM_024529.4:c.1551A>G , LRG_507t1:c.1551A>G | NP_078805.3:p.Thr517= | |
| NM_024529.5:c.1551A>G MANE Select | NP_078805.3:p.Thr517= |