Linked Data
ClinVar Variation Id:
240765
dbSNP Id:
rs200678111
ExAC:
1:15771140 A / G
gnomAD v2:
1-15771140-A-G
gnomAD v3:
1-15444645-A-G
gnomAD v4:
1-15444645-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15444645A>G , CM000663.2:g.15444645A>G | GRCh38 |
| NC_000001.10:g.15771140A>G , CM000663.1:g.15771140A>G | GRCh37 |
| NC_000001.9:g.15643727A>G | NCBI36 |
| NG_009253.1:g.11203A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.533A>G MANE Select | ENSP00000365116.4:p.Gln178Arg | |
| ENST00000375943.6:c.*94-952A>G | ENSP00000365110.2:n.*94-952A>G | |
| ENST00000375949.4:c.533A>G | ENSP00000365116.4:p.Gln178Arg | |
| ENST00000483406.1:n.404-952A>G | ||
| NM_007272.2:c.533A>G | NP_009203.2:p.Gln178Arg | |
| XM_011540550.1:c.494-952A>G | XP_011538852.1:n.494-952A>G | |
| NM_007272.3:c.533A>G MANE Select | NP_009203.2:p.Gln178Arg |