Linked Data
ClinVar Variation Id:
306192
dbSNP Id:
rs886048681
gnomAD v2:
11-76914150-C-A
gnomAD v4:
11-77203105-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77203105C>A , CM000673.2:g.77203105C>A | GRCh38 |
| NC_000011.9:g.76914150C>A , CM000673.1:g.76914150C>A | GRCh37 |
| NC_000011.8:g.76591798C>A | NCBI36 |
| NG_009086.1:g.79841C>A | |
| NG_009086.2:g.79860C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5214C>A MANE Select | ENSP00000386331.3:p.Ala1738= | |
| ENST00000670577.1:c.3055C>A | ||
| ENST00000409619.6:c.5067C>A | ENSP00000386635.2:p.Ala1689= | |
| ENST00000409709.7:c.5214C>A | ENSP00000386331.3:p.Ala1738= | |
| ENST00000458169.2:c.2640C>A | ENSP00000417017.2:p.Ala880= | |
| ENST00000458637.6:c.5100C>A | ENSP00000392185.2:p.Ala1700= | |
| ENST00000481328.7:n.2750C>A | ||
| NM_000260.3:c.5214C>A | NP_000251.3:p.Ala1738= | |
| NM_001127180.1:c.5100C>A | NP_001120652.1:p.Ala1700= | |
| XM_005274012.2:c.5097C>A | XP_005274069.1:p.Ala1699= | |
| XM_006718558.2:c.5205C>A | XP_006718621.1:p.Ala1735= | |
| XM_006718559.2:c.5100C>A | XP_006718622.1:p.Ala1700= | |
| XM_006718560.2:c.5097C>A | XP_006718623.1:p.Ala1699= | |
| XM_006718561.2:c.5100C>A | XP_006718624.1:p.Ala1700= | |
| XM_011545044.1:c.5214C>A | XP_011543346.1:p.Ala1738= | |
| XM_011545045.1:c.5208C>A | XP_011543347.1:p.Ala1736= | |
| XM_011545046.1:c.5181C>A | XP_011543348.1:p.Ala1727= | |
| XM_011545047.1:c.5118C>A | XP_011543349.1:p.Ala1706= | |
| XM_011545048.1:c.4989C>A | XP_011543350.1:p.Ala1663= | |
| XM_011545049.1:c.4977C>A | XP_011543351.1:p.Ala1659= | |
| XM_011545050.1:c.4950C>A | XP_011543352.1:p.Ala1650= | |
| XM_011545051.1:c.5214C>A | XP_011543353.1:p.Ala1738= | |
| XM_011545052.1:c.5214C>A | XP_011543354.1:p.Ala1738= | |
| XR_949938.1:n.5534C>A | ||
| XR_949941.1:n.5534C>A | ||
| XR_949942.1:n.5536C>A | ||
| XM_011545044.2:c.5214C>A | XP_011543346.1:p.Ala1738= | |
| XM_011545046.2:c.5304C>A | XP_011543348.2:p.Ala1768= | |
| XM_011545050.2:c.4950C>A | XP_011543352.1:p.Ala1650= | |
| XM_017017778.1:c.5298C>A | XP_016873267.1:p.Ala1766= | |
| XM_017017779.1:c.5295C>A | XP_016873268.1:p.Ala1765= | |
| XM_017017780.1:c.5304C>A | XP_016873269.1:p.Ala1768= | |
| XM_017017781.1:c.5208C>A | XP_016873270.1:p.Ala1736= | |
| XM_017017782.1:c.5190C>A | XP_016873271.1:p.Ala1730= | |
| XM_017017783.1:c.5187C>A | XP_016873272.1:p.Ala1729= | |
| XM_017017784.1:c.5187C>A | XP_016873273.1:p.Ala1729= | |
| XM_017017785.1:c.5067C>A | XP_016873274.1:p.Ala1689= | |
| XM_017017786.1:c.5304C>A | XP_016873275.1:p.Ala1768= | |
| XM_017017788.1:c.5190C>A | XP_016873277.1:p.Ala1730= | |
| XR_001747885.1:n.5319C>A | ||
| XR_001747886.1:n.5319C>A | ||
| XR_001747887.1:n.5319C>A | ||
| XR_001747888.1:n.5319C>A | ||
| NM_000260.4:c.5214C>A MANE Select | NP_000251.3:p.Ala1738= | |
| NM_001127180.2:c.5100C>A | NP_001120652.1:p.Ala1700= | |
| NM_001369365.1:c.5067C>A | NP_001356294.1:p.Ala1689= |