Linked Data
dbSNP Id:
rs756706052
ExAC:
11:6415889 A / G
gnomAD v2:
11-6415889-A-G
gnomAD v4:
11-6394659-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394659A>G , CM000673.2:g.6394659A>G | GRCh38 |
| NC_000011.9:g.6415889A>G , CM000673.1:g.6415889A>G | GRCh37 |
| NC_000011.8:g.6372465A>G | NCBI36 |
| NG_011780.1:g.9235A>G | |
| NG_029615.1:g.29756T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.*52A>G MANE Select | ENSP00000340409.4:n.*52A>G | |
| ENST00000342245.8:c.*52A>G | ENSP00000340409.4:n.*52A>G | |
| ENST00000526280.1:c.1005A>G | ||
| ENST00000527275.5:c.*52A>G | ENSP00000435350.1:n.*52A>G | |
| ENST00000531303.5:c.*799A>G | ENSP00000432625.1:n.*799A>G | |
| ENST00000533123.5:c.*675A>G | ENSP00000435950.1:n.*675A>G | |
| ENST00000534405.5:c.*779A>G | ENSP00000434353.1:n.*779A>G | |
| NM_000543.4:c.*52A>G | NP_000534.3:n.*52A>G | |
| NM_001007593.2:c.*52A>G | NP_001007594.2:n.*52A>G | |
| XM_011520303.1:c.*52A>G | XP_011518605.1:n.*52A>G | |
| NM_001318087.1:c.*441A>G | NP_001305016.1:n.*441A>G | |
| NM_001318088.1:c.*52A>G | NP_001305017.1:n.*52A>G | |
| NM_001365135.1:c.*52A>G | NP_001352064.1:n.*52A>G | |
| NR_027400.2:n.1961A>G | ||
| NR_134502.1:n.1500A>G | ||
| XR_001747940.2:n.2133A>G | ||
| XR_002957158.1:n.2315A>G | ||
| NM_000543.5:c.*52A>G MANE Select | NP_000534.3:n.*52A>G | |
| NM_001007593.3:c.*52A>G | NP_001007594.2:n.*52A>G | |
| NM_001318087.2:c.*441A>G | NP_001305016.1:n.*441A>G | |
| NM_001318088.2:c.*52A>G | NP_001305017.1:n.*52A>G | |
| NM_001365135.2:c.*52A>G | NP_001352064.1:n.*52A>G | |
| NR_027400.3:n.1901A>G | ||
| NR_134502.2:n.1440A>G |