Linked Data
ClinVar Variation Id:
303972
dbSNP Id:
rs184687090
ExAC:
11:1955624 G / A
gnomAD v2:
11-1955624-G-A
gnomAD v3:
11-1934394-G-A
gnomAD v4:
11-1934394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1934394G>A , CM000673.2:g.1934394G>A | GRCh38 |
| NC_000011.9:g.1955624G>A , CM000673.1:g.1955624G>A | GRCh37 |
| NC_000011.8:g.1912200G>A | NCBI36 |
| NG_013085.1:g.19826G>A | |
| NG_013085.2:g.19826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706488.1:c.423G>A | ENSP00000516410.1:p.Lys141= | |
| ENST00000278317.11:c.429G>A MANE Select | ENSP00000278317.6:p.Lys143= | |
| ENST00000381558.6:c.405G>A | ENSP00000370970.1:p.Lys135= | |
| ENST00000639560.1:n.539G>A | ||
| ENST00000641119.1:c.423G>A | ENSP00000492914.1:p.Lys141= | |
| ENST00000641225.1:c.225G>A | ENSP00000493372.1:p.Lys75= | |
| ENST00000641787.1:c.405G>A | ENSP00000493331.1:p.Lys135= | |
| ENST00000278317.10:c.429G>A | ENSP00000278317.6:p.Lys143= | |
| ENST00000344578.8:c.390G>A | ENSP00000344870.4:p.Lys130= | |
| ENST00000381557.6:c.387G>A | ENSP00000370969.2:p.Lys129= | |
| ENST00000381558.5:c.405G>A | ENSP00000370970.1:p.Lys135= | |
| ENST00000381563.8:c.438G>A | ENSP00000370975.4:p.Lys146= | |
| ENST00000381579.7:c.405G>A | ENSP00000370991.3:p.Lys135= | |
| ENST00000381589.7:c.423G>A | ENSP00000371001.3:p.Lys141= | |
| ENST00000397301.5:c.462G>A | ENSP00000380468.1:p.Lys154= | |
| ENST00000397304.6:c.372G>A | ENSP00000380471.2:p.Lys124= | |
| ENST00000446240.1:c.372G>A | ENSP00000413203.1:p.Lys124= | |
| ENST00000453458.5:c.372G>A | ENSP00000415614.1:p.Lys124= | |
| ENST00000492075.5:n.646G>A | ||
| ENST00000493234.1:n.199G>A | ||
| NM_001042780.2:c.405G>A | NP_001036245.1:p.Lys135= | |
| NM_001042781.2:c.423G>A | NP_001036246.1:p.Lys141= | |
| NM_001042782.2:c.405G>A | NP_001036247.1:p.Lys135= | |
| NM_001297646.1:c.405G>A | NP_001284575.1:p.Lys135= | |
| NM_006757.3:c.429G>A | NP_006748.1:p.Lys143= | |
| XM_006718288.2:c.477G>A | XP_006718351.1:p.Lys159= | |
| XM_006718290.2:c.462G>A | XP_006718353.1:p.Lys154= | |
| XM_006718291.2:c.450G>A | XP_006718354.1:p.Lys150= | |
| XM_006718292.2:c.441G>A | XP_006718355.1:p.Lys147= | |
| XM_006718293.1:c.438G>A | XP_006718356.1:p.Lys146= | |
| XM_006718294.2:c.438G>A | XP_006718357.1:p.Lys146= | |
| XM_006718295.2:c.435G>A | XP_006718358.1:p.Lys145= | |
| XM_006718296.2:c.426G>A | XP_006718359.1:p.Lys142= | |
| XM_006718297.2:c.417G>A | XP_006718360.1:p.Lys139= | |
| XM_006718298.2:c.411G>A | XP_006718361.1:p.Lys137= | |
| XM_006718299.1:c.402G>A | XP_006718362.1:p.Lys134= | |
| XM_006718300.2:c.390G>A | XP_006718363.1:p.Lys130= | |
| XM_006718301.2:c.390G>A | XP_006718364.1:p.Lys130= | |
| XM_006718302.2:c.372G>A | XP_006718365.1:p.Lys124= | |
| XM_011520342.1:c.462G>A | XP_011518644.1:p.Lys154= | |
| XM_011520343.1:c.462G>A | XP_011518645.1:p.Lys154= | |
| NM_001363561.1:c.438G>A | NP_001350490.1:p.Lys146= | |
| XM_006718288.3:c.477G>A | XP_006718351.1:p.Lys159= | |
| XM_006718290.3:c.462G>A | XP_006718353.1:p.Lys154= | |
| XM_006718294.3:c.438G>A | XP_006718357.1:p.Lys146= | |
| XM_006718296.3:c.426G>A | XP_006718359.1:p.Lys142= | |
| XM_006718299.2:c.402G>A | XP_006718362.1:p.Lys134= | |
| XM_006718300.3:c.390G>A | XP_006718363.1:p.Lys130= | |
| XM_006718302.3:c.372G>A | XP_006718365.1:p.Lys124= | |
| XM_011520343.2:c.462G>A | XP_011518645.1:p.Lys154= | |
| XM_017018205.1:c.423G>A | XP_016873694.1:p.Lys141= | |
| XM_017018206.1:c.462G>A | XP_016873695.1:p.Lys154= | |
| XM_017018207.1:c.450G>A | XP_016873696.1:p.Lys150= | |
| XM_017018208.1:c.441G>A | XP_016873697.1:p.Lys147= | |
| XM_017018209.1:c.426G>A | XP_016873698.1:p.Lys142= | |
| XM_017018210.1:c.417G>A | XP_016873699.1:p.Lys139= | |
| XM_017018211.1:c.411G>A | XP_016873700.1:p.Lys137= | |
| XM_017018212.1:c.408G>A | XP_016873701.1:p.Lys136= | |
| XM_017018213.1:c.393G>A | XP_016873702.1:p.Lys131= | |
| XM_017018214.1:c.390G>A | XP_016873703.1:p.Lys130= | |
| XM_017018215.1:c.384G>A | XP_016873704.1:p.Lys128= | |
| XM_017018216.1:c.444G>A | XP_016873705.1:p.Lys148= | |
| XM_017018217.1:c.423G>A | XP_016873706.1:p.Lys141= | |
| XM_017018218.1:c.411G>A | XP_016873707.1:p.Lys137= | |
| XM_017018219.1:c.372G>A | XP_016873708.1:p.Lys124= | |
| XM_024448669.1:c.423G>A | XP_024304437.1:p.Lys141= | |
| XM_024448670.1:c.405G>A | XP_024304438.1:p.Lys135= | |
| XM_024448671.1:c.402G>A | XP_024304439.1:p.Lys134= | |
| XM_024448672.1:c.384G>A | XP_024304440.1:p.Lys128= | |
| NM_001367842.1:c.423G>A | NP_001354771.1:p.Lys141= | |
| NM_001367843.1:c.423G>A | NP_001354772.1:p.Lys141= | |
| NM_001367844.1:c.405G>A | NP_001354773.1:p.Lys135= | |
| NM_001367845.1:c.405G>A | NP_001354774.1:p.Lys135= | |
| NM_001367846.1:c.462G>A | NP_001354775.1:p.Lys154= | |
| NM_001367847.1:c.438G>A | NP_001354776.1:p.Lys146= | |
| NM_001367848.1:c.426G>A | NP_001354777.1:p.Lys142= | |
| NM_001367849.1:c.417G>A | NP_001354778.1:p.Lys139= | |
| NM_001367850.1:c.372G>A | NP_001354779.1:p.Lys124= | |
| NM_001367851.1:c.225G>A | NP_001354780.1:p.Lys75= | |
| NM_001367852.1:c.225G>A | NP_001354781.1:p.Lys75= | |
| NM_006757.4:c.429G>A MANE Select | NP_006748.1:p.Lys143= | |
| NM_001042780.3:c.405G>A | NP_001036245.1:p.Lys135= | |
| NM_001042781.3:c.423G>A | NP_001036246.1:p.Lys141= | |
| NM_001042782.3:c.405G>A | NP_001036247.1:p.Lys135= | |
| NM_001297646.2:c.405G>A | NP_001284575.1:p.Lys135= | |
| NM_001363561.2:c.438G>A | NP_001350490.1:p.Lys146= |