Linked Data
ClinVar Variation Id:
95144
dbSNP Id:
rs148479162
ExAC:
1:10678450 A / G
gnomAD v2:
1-10678450-A-G
gnomAD v3:
1-10618393-A-G
gnomAD v4:
1-10618393-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10618393A>G , CM000663.2:g.10618393A>G | GRCh38 |
| NC_000001.10:g.10678450A>G , CM000663.1:g.10678450A>G | GRCh37 |
| NC_000001.9:g.10601037A>G | NCBI36 |
| NG_008340.1:g.148448A>G | |
| NG_008340.2:g.148448A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.360A>G MANE Select | ENSP00000349016.4:p.Ala120= | |
| ENST00000356607.8:c.360A>G | ENSP00000349016.4:p.Ala120= | |
| ENST00000491661.2:c.345A>G | ENSP00000465473.1:p.Ala115= | |
| NM_004565.2:c.360A>G | NP_004556.1:p.Ala120= | |
| XM_005263470.3:c.168A>G | XP_005263527.1:p.Ala56= | |
| XM_011541577.1:c.402A>G | XP_011539879.1:p.Ala134= | |
| XM_011541578.1:c.303A>G | XP_011539880.1:p.Ala101= | |
| XM_011541579.1:c.273A>G | XP_011539881.1:p.Ala91= | |
| XM_011541580.1:c.231A>G | XP_011539882.1:p.Ala77= | |
| XM_005263470.5:c.168A>G | XP_005263527.1:p.Ala56= | |
| XM_011541577.2:c.402A>G | XP_011539879.1:p.Ala134= | |
| XM_011541578.2:c.303A>G | XP_011539880.1:p.Ala101= | |
| XM_011541579.3:c.273A>G | XP_011539881.1:p.Ala91= | |
| XM_024447651.1:c.168A>G | XP_024303419.1:p.Ala56= | |
| NM_004565.3:c.360A>G MANE Select | NP_004556.1:p.Ala120= |