Linked Data
ClinVar Variation Id:
306196
dbSNP Id:
rs375627342
ExAC:
11:76917166 G / A
gnomAD v2:
11-76917166-G-A
gnomAD v3:
11-77206121-G-A
gnomAD v4:
11-77206121-G-A
COSMIC:
COSM932154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77206121G>A , CM000673.2:g.77206121G>A | GRCh38 |
| NC_000011.9:g.76917166G>A , CM000673.1:g.76917166G>A | GRCh37 |
| NC_000011.8:g.76594814G>A | NCBI36 |
| NG_009086.1:g.82857G>A | |
| NG_009086.2:g.82876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5661G>A MANE Select | ENSP00000386331.3:p.Pro1887= | |
| ENST00000670577.1:c.3488G>A | ||
| ENST00000409619.6:c.5514G>A | ENSP00000386635.2:p.Pro1838= | |
| ENST00000409709.7:c.5661G>A | ENSP00000386331.3:p.Pro1887= | |
| ENST00000458169.2:c.3087G>A | ENSP00000417017.2:p.Pro1029= | |
| ENST00000458637.6:c.5547G>A | ENSP00000392185.2:p.Pro1849= | |
| ENST00000481328.7:n.3197G>A | ||
| ENST00000605744.1:n.282G>A | ||
| NM_000260.3:c.5661G>A | NP_000251.3:p.Pro1887= | |
| NM_001127180.1:c.5547G>A | NP_001120652.1:p.Pro1849= | |
| XM_005274012.2:c.5544G>A | XP_005274069.1:p.Pro1848= | |
| XM_006718558.2:c.5652G>A | XP_006718621.1:p.Pro1884= | |
| XM_006718559.2:c.5547G>A | XP_006718622.1:p.Pro1849= | |
| XM_006718560.2:c.5544G>A | XP_006718623.1:p.Pro1848= | |
| XM_006718561.2:c.5547G>A | XP_006718624.1:p.Pro1849= | |
| XM_011545044.1:c.5661G>A | XP_011543346.1:p.Pro1887= | |
| XM_011545045.1:c.5655G>A | XP_011543347.1:p.Pro1885= | |
| XM_011545046.1:c.5628G>A | XP_011543348.1:p.Pro1876= | |
| XM_011545047.1:c.5565G>A | XP_011543349.1:p.Pro1855= | |
| XM_011545048.1:c.5436G>A | XP_011543350.1:p.Pro1812= | |
| XM_011545049.1:c.5424G>A | XP_011543351.1:p.Pro1808= | |
| XM_011545050.1:c.5397G>A | XP_011543352.1:p.Pro1799= | |
| XM_011545051.1:c.5661G>A | XP_011543353.1:p.Pro1887= | |
| XM_011545052.1:c.*26G>A | XP_011543354.1:n.*26G>A | |
| XR_949938.1:n.5981G>A | ||
| XR_949941.1:n.5981G>A | ||
| XM_011545044.2:c.5661G>A | XP_011543346.1:p.Pro1887= | |
| XM_011545046.2:c.5751G>A | XP_011543348.2:p.Pro1917= | |
| XM_011545050.2:c.5397G>A | XP_011543352.1:p.Pro1799= | |
| XM_017017778.1:c.5745G>A | XP_016873267.1:p.Pro1915= | |
| XM_017017779.1:c.5742G>A | XP_016873268.1:p.Pro1914= | |
| XM_017017780.1:c.5751G>A | XP_016873269.1:p.Pro1917= | |
| XM_017017781.1:c.5655G>A | XP_016873270.1:p.Pro1885= | |
| XM_017017782.1:c.5637G>A | XP_016873271.1:p.Pro1879= | |
| XM_017017783.1:c.5634G>A | XP_016873272.1:p.Pro1878= | |
| XM_017017784.1:c.5634G>A | XP_016873273.1:p.Pro1878= | |
| XM_017017785.1:c.5514G>A | XP_016873274.1:p.Pro1838= | |
| XM_017017786.1:c.5751G>A | XP_016873275.1:p.Pro1917= | |
| XM_017017788.1:c.5637G>A | XP_016873277.1:p.Pro1879= | |
| XR_001747885.1:n.5766G>A | ||
| XR_001747886.1:n.5681G>A | ||
| XR_001747887.1:n.5752G>A | ||
| NM_000260.4:c.5661G>A MANE Select | NP_000251.3:p.Pro1887= | |
| NM_001127180.2:c.5547G>A | NP_001120652.1:p.Pro1849= | |
| NM_001369365.1:c.5514G>A | NP_001356294.1:p.Pro1838= |