Linked Data
ClinVar Variation Id:
43318
dbSNP Id:
rs111033198
ExAC:
11:76922215 C / T
gnomAD v2:
11-76922215-C-T
gnomAD v3:
11-77211170-C-T
gnomAD v4:
11-77211170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211170C>T , CM000673.2:g.77211170C>T | GRCh38 |
| NC_000011.9:g.76922215C>T , CM000673.1:g.76922215C>T | GRCh37 |
| NC_000011.8:g.76599863C>T | NCBI36 |
| NG_009086.1:g.87906C>T | |
| NG_009086.2:g.87925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6070C>T MANE Select | ENSP00000386331.3:p.Arg2024Ter | |
| ENST00000670577.1:c.3871C>T | ||
| ENST00000409619.6:c.5923C>T | ENSP00000386635.2:p.Arg1975Ter | |
| ENST00000409709.7:c.6070C>T | ENSP00000386331.3:p.Arg2024Ter | |
| ENST00000458169.2:c.3496C>T | ENSP00000417017.2:p.Arg1166Ter | |
| ENST00000458637.6:c.5956C>T | ENSP00000392185.2:p.Arg1986Ter | |
| ENST00000481328.7:n.3606C>T | ||
| ENST00000526863.2:n.25+259C>T | ||
| ENST00000605744.1:n.1537C>T | ||
| NM_000260.3:c.6070C>T | NP_000251.3:p.Arg2024Ter | |
| NM_001127180.1:c.5956C>T | NP_001120652.1:p.Arg1986Ter | |
| XM_005274012.2:c.5953C>T | XP_005274069.1:p.Arg1985Ter | |
| XM_006718558.2:c.6061C>T | XP_006718621.1:p.Arg2021Ter | |
| XM_006718559.2:c.5956C>T | XP_006718622.1:p.Arg1986Ter | |
| XM_006718560.2:c.5953C>T | XP_006718623.1:p.Arg1985Ter | |
| XM_006718561.2:c.5956C>T | XP_006718624.1:p.Arg1986Ter | |
| XM_011545044.1:c.6070C>T | XP_011543346.1:p.Arg2024Ter | |
| XM_011545045.1:c.6064C>T | XP_011543347.1:p.Arg2022Ter | |
| XM_011545046.1:c.6037C>T | XP_011543348.1:p.Arg2013Ter | |
| XM_011545047.1:c.5974C>T | XP_011543349.1:p.Arg1992Ter | |
| XM_011545048.1:c.5845C>T | XP_011543350.1:p.Arg1949Ter | |
| XM_011545049.1:c.5833C>T | XP_011543351.1:p.Arg1945Ter | |
| XM_011545050.1:c.5806C>T | XP_011543352.1:p.Arg1936Ter | |
| XM_011545051.1:c.6070C>T | XP_011543353.1:p.Arg2024Ter | |
| XR_949938.1:n.6390C>T | ||
| XR_949941.1:n.6364C>T | ||
| XM_011545044.2:c.6070C>T | XP_011543346.1:p.Arg2024Ter | |
| XM_011545046.2:c.6160C>T | XP_011543348.2:p.Arg2054Ter | |
| XM_011545050.2:c.5806C>T | XP_011543352.1:p.Arg1936Ter | |
| XM_017017778.1:c.6154C>T | XP_016873267.1:p.Arg2052Ter | |
| XM_017017779.1:c.6151C>T | XP_016873268.1:p.Arg2051Ter | |
| XM_017017780.1:c.6160C>T | XP_016873269.1:p.Arg2054Ter | |
| XM_017017781.1:c.6064C>T | XP_016873270.1:p.Arg2022Ter | |
| XM_017017782.1:c.6046C>T | XP_016873271.1:p.Arg2016Ter | |
| XM_017017783.1:c.6043C>T | XP_016873272.1:p.Arg2015Ter | |
| XM_017017784.1:c.6043C>T | XP_016873273.1:p.Arg2015Ter | |
| XM_017017785.1:c.5923C>T | XP_016873274.1:p.Arg1975Ter | |
| XM_017017786.1:c.6160C>T | XP_016873275.1:p.Arg2054Ter | |
| XM_017017788.1:c.6046C>T | XP_016873277.1:p.Arg2016Ter | |
| XR_001747885.1:n.6149C>T | ||
| XR_001747886.1:n.6090C>T | ||
| XR_001747887.1:n.6135C>T | ||
| NM_000260.4:c.6070C>T MANE Select | NP_000251.3:p.Arg2024Ter | |
| NM_001127180.2:c.5956C>T | NP_001120652.1:p.Arg1986Ter | |
| NM_001369365.1:c.5923C>T | NP_001356294.1:p.Arg1975Ter |