Linked Data
ClinVar Variation Id:
414860
dbSNP Id:
rs151181785
ExAC:
2:58425735 T / C
gnomAD v2:
2-58425735-T-C
gnomAD v3:
2-58198600-T-C
gnomAD v4:
2-58198600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58198600T>C , CM000664.2:g.58198600T>C | GRCh38 |
| NC_000002.11:g.58425735T>C , CM000664.1:g.58425735T>C | GRCh37 |
| NC_000002.10:g.58279239T>C | NCBI36 |
| NG_007418.1:g.47780A>G , LRG_501:g.47780A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.534A>G | ENSP00000385021.3:p.Thr178= | |
| ENST00000403295.8:c.534A>G | ENSP00000386097.3:p.Thr178= | |
| ENST00000403676.6:c.*97A>G | ENSP00000384046.2:n.*97A>G | |
| ENST00000417361.2:c.*97A>G | ENSP00000389448.2:n.*97A>G | |
| ENST00000427708.7:c.534A>G | ENSP00000400969.3:p.Thr178= | |
| ENST00000446381.6:c.97-32726A>G | ENSP00000390991.2:n.97-32726A>G | |
| ENST00000449070.6:c.357A>G | ENSP00000401280.2:p.Thr119= | |
| ENST00000470506.2:n.593A>G | ||
| ENST00000696305.1:c.477A>G | ENSP00000512543.1:p.Thr159= | |
| ENST00000696306.1:c.374+23342A>G | ENSP00000512544.1:n.374+23342A>G | |
| ENST00000696307.1:c.534A>G | ENSP00000512545.1:p.Thr178= | |
| ENST00000696314.1:c.534A>G | ENSP00000512552.1:p.Thr178= | |
| ENST00000696315.1:c.*97A>G | ENSP00000512553.1:n.*97A>G | |
| ENST00000696316.1:c.534A>G | ENSP00000512554.1:p.Thr178= | |
| ENST00000696317.1:c.534A>G | ENSP00000512555.1:p.Thr178= | |
| ENST00000696318.1:c.97-32726A>G | ENSP00000512556.1:n.97-32726A>G | |
| ENST00000696319.1:c.477A>G | ENSP00000512557.1:p.Thr159= | |
| ENST00000696320.1:n.546A>G | ||
| ENST00000696321.1:c.357A>G | ENSP00000512558.1:p.Thr119= | |
| ENST00000696324.1:c.*97A>G | ENSP00000512561.1:n.*97A>G | |
| ENST00000696325.1:n.3602A>G | ||
| ENST00000696326.1:c.534A>G | ENSP00000512562.1:p.Thr178= | |
| ENST00000696338.1:n.567A>G | ||
| ENST00000696339.1:n.28A>G | ||
| ENST00000696340.1:n.554A>G | ||
| ENST00000696341.1:n.602A>G | ||
| ENST00000696342.1:c.*97A>G | ENSP00000512569.1:n.*97A>G | |
| ENST00000696343.1:n.2393A>G | ||
| ENST00000696344.1:c.*248A>G | ENSP00000512570.1:n.*248A>G | |
| ENST00000696345.1:n.546A>G | ||
| ENST00000696346.1:n.209+23342A>G | ||
| ENST00000696347.1:c.*293A>G | ENSP00000512571.1:n.*293A>G | |
| ENST00000696358.1:n.546A>G | ||
| ENST00000696360.1:n.1238A>G | ||
| ENST00000696361.1:c.*97A>G | ENSP00000512579.1:n.*97A>G | |
| ENST00000696362.1:c.374+23342A>G | ENSP00000512580.1:n.374+23342A>G | |
| ENST00000696363.1:n.2311A>G | ||
| ENST00000696364.1:n.487A>G | ||
| ENST00000696371.1:c.525A>G | ENSP00000512586.1:p.Thr175= | |
| ENST00000696373.1:c.*97A>G | ENSP00000512587.1:n.*97A>G | |
| ENST00000696374.1:c.374+23342A>G | ENSP00000512588.1:n.374+23342A>G | |
| ENST00000696377.1:n.421A>G | ||
| ENST00000696378.1:c.*97A>G | ENSP00000512589.1:n.*97A>G | |
| ENST00000696379.1:c.*97A>G | ENSP00000512590.1:n.*97A>G | |
| ENST00000696380.1:n.314A>G | ||
| ENST00000696394.1:n.3596A>G | ||
| ENST00000696395.1:n.109-32726A>G | ||
| ENST00000696396.1:n.1248A>G | ||
| ENST00000696397.1:n.2219A>G | ||
| ENST00000696398.1:c.534A>G | ENSP00000512604.1:p.Thr178= | |
| ENST00000696399.1:n.148-32726A>G | ||
| ENST00000696400.1:c.*298A>G | ENSP00000512605.1:n.*298A>G | |
| ENST00000696401.1:n.501A>G | ||
| ENST00000696409.1:c.*97A>G | ENSP00000512610.1:n.*97A>G | |
| ENST00000696410.1:c.*97A>G | ENSP00000512611.1:n.*97A>G | |
| ENST00000696411.1:n.165-32726A>G | ||
| ENST00000696414.1:n.1140A>G | ||
| ENST00000696415.1:c.534A>G | ENSP00000512612.1:p.Thr178= | |
| ENST00000696416.1:n.109-32726A>G | ||
| ENST00000696417.1:c.*264A>G | ENSP00000512613.1:n.*264A>G | |
| ENST00000696432.1:n.2978A>G | ||
| ENST00000696433.1:c.97-32726A>G | ENSP00000512627.1:n.97-32726A>G | |
| ENST00000696434.1:c.357A>G | ENSP00000512628.1:p.Thr119= | |
| ENST00000696435.1:c.97-32726A>G | ENSP00000512629.1:n.97-32726A>G | |
| ENST00000696438.1:c.*367A>G | ENSP00000512630.1:n.*367A>G | |
| ENST00000696454.1:c.*97A>G | ENSP00000512641.1:n.*97A>G | |
| ENST00000696455.1:c.357A>G | ENSP00000512642.1:p.Thr119= | |
| ENST00000696457.1:c.97-32726A>G | ENSP00000512643.1:n.97-32726A>G | |
| ENST00000696458.1:c.477A>G | ENSP00000512644.1:p.Thr159= | |
| ENST00000696459.1:c.*97A>G | ENSP00000512645.1:n.*97A>G | |
| ENST00000696460.1:n.546A>G | ||
| ENST00000696461.1:c.534A>G | ENSP00000512646.1:p.Thr178= | |
| ENST00000696467.1:c.*97A>G | ENSP00000512648.1:n.*97A>G | |
| ENST00000696468.1:c.534A>G | ENSP00000512649.1:p.Thr178= | |
| ENST00000696469.1:c.534A>G | ENSP00000512650.1:p.Thr178= | |
| ENST00000696472.1:c.534A>G | ENSP00000512651.1:p.Thr178= | |
| ENST00000696473.1:c.*217A>G | ENSP00000512652.1:n.*217A>G | |
| ENST00000696475.1:n.2170A>G | ||
| ENST00000696476.1:c.534A>G | ENSP00000512653.1:p.Thr178= | |
| ENST00000696477.1:n.476A>G | ||
| ENST00000696492.1:c.*199A>G | ENSP00000512662.1:n.*199A>G | |
| ENST00000696493.1:c.*367A>G | ENSP00000512663.1:n.*367A>G | |
| ENST00000696494.1:n.694A>G | ||
| ENST00000696495.1:c.*220A>G | ENSP00000512664.1:n.*220A>G | |
| ENST00000696496.1:n.573A>G | ||
| ENST00000696497.1:n.3831A>G | ||
| ENST00000696498.1:n.1421A>G | ||
| ENST00000696499.1:c.534A>G | ENSP00000512665.1:p.Thr178= | |
| ENST00000696508.1:c.*97A>G | ENSP00000512674.1:n.*97A>G | |
| ENST00000696509.1:c.534A>G | ENSP00000512675.1:p.Thr178= | |
| ENST00000696510.1:c.97-32726A>G | ENSP00000512676.1:n.97-32726A>G | |
| ENST00000696511.1:c.*248A>G | ENSP00000512677.1:n.*248A>G | |
| ENST00000696527.1:c.534A>G | ENSP00000512690.1:p.Thr178= | |
| ENST00000696528.1:c.477A>G | ENSP00000512691.1:p.Thr159= | |
| ENST00000696530.1:c.315A>G | ENSP00000512692.1:p.Thr105= | |
| ENST00000696531.1:c.*97A>G | ENSP00000512693.1:n.*97A>G | |
| ENST00000696542.1:n.39-32726A>G | ||
| ENST00000696543.1:c.357A>G | ENSP00000512703.1:p.Thr119= | |
| ENST00000696544.1:c.414A>G | ENSP00000512704.1:p.Thr138= | |
| ENST00000696545.1:c.*248A>G | ENSP00000512705.1:n.*248A>G | |
| ENST00000696546.1:c.*298A>G | ENSP00000512706.1:n.*298A>G | |
| ENST00000696547.1:c.477A>G | ENSP00000512707.1:p.Thr159= | |
| ENST00000696548.1:c.*298A>G | ENSP00000512708.1:n.*298A>G | |
| ENST00000696549.1:c.534A>G | ENSP00000512709.1:p.Thr178= | |
| ENST00000696550.1:c.534A>G | ENSP00000512710.1:p.Thr178= | |
| ENST00000696564.1:c.534A>G | ENSP00000512722.1:p.Thr178= | |
| ENST00000696565.1:c.534A>G | ENSP00000512723.1:p.Thr178= | |
| ENST00000696566.1:n.476A>G | ||
| ENST00000696567.1:c.534A>G | ENSP00000512724.1:p.Thr178= | |
| ENST00000696569.1:n.547A>G | ||
| ENST00000696570.1:c.374+23342A>G | ENSP00000512725.1:n.374+23342A>G | |
| ENST00000696594.1:c.534A>G | ENSP00000512739.1:p.Thr178= | |
| ENST00000696595.1:c.477A>G | ENSP00000512740.1:p.Thr159= | |
| ENST00000696596.1:c.*97A>G | ENSP00000512741.1:n.*97A>G | |
| ENST00000696597.1:c.*97A>G | ENSP00000512742.1:n.*97A>G | |
| ENST00000696598.1:c.534A>G | ENSP00000512743.1:p.Thr178= | |
| ENST00000696620.1:c.216+31214A>G | ENSP00000512759.1:n.216+31214A>G | |
| ENST00000696621.1:c.534A>G | ENSP00000512760.1:p.Thr178= | |
| ENST00000696622.1:n.553A>G | ||
| ENST00000696623.1:n.419A>G | ||
| ENST00000696624.1:c.534A>G | ENSP00000512761.1:p.Thr178= | |
| ENST00000696625.1:c.317+23342A>G | ENSP00000512762.1:n.317+23342A>G | |
| ENST00000696634.1:c.256A>G | ENSP00000512770.1:n.256A>G | |
| ENST00000696635.1:c.534A>G | ENSP00000512771.1:p.Thr178= | |
| ENST00000696637.1:n.4961A>G | ||
| ENST00000696638.1:n.504A>G | ||
| ENST00000233741.9:c.534A>G MANE Select | ENSP00000233741.5:p.Thr178= | |
| ENST00000233741.8:c.534A>G | ENSP00000233741.4:p.Thr178= | |
| ENST00000402135.7:c.534A>G | ENSP00000385021.3:p.Thr178= | |
| ENST00000403295.7:c.534A>G | ENSP00000386097.3:p.Thr178= | |
| ENST00000403676.5:c.183A>G | ENSP00000384046.1:p.Thr61= | |
| ENST00000417361.1:c.183A>G | ENSP00000389448.1:p.Thr61= | |
| ENST00000427708.6:c.532A>G | ||
| ENST00000446381.5:c.97-32726A>G | ENSP00000390991.1:n.97-32726A>G | |
| ENST00000449070.5:c.357A>G | ENSP00000401280.1:p.Thr119= | |
| NM_001114636.1:c.534A>G , LRG_501t1:c.534A>G | NP_001108108.1:p.Thr178= | |
| NM_018062.3:c.534A>G , LRG_501t2:c.534A>G | NP_060532.2:p.Thr178= | |
| XM_005264395.2:c.534A>G | XP_005264452.1:p.Thr178= | |
| XM_005264397.3:c.183A>G | XP_005264454.1:p.Thr61= | |
| XM_011532939.1:c.534A>G | XP_011531241.1:p.Thr178= | |
| XM_011532940.1:c.534A>G | XP_011531242.1:p.Thr178= | |
| XM_011532941.1:c.534A>G | XP_011531243.1:p.Thr178= | |
| XM_011532942.1:c.534A>G | XP_011531244.1:p.Thr178= | |
| XM_011532943.1:c.735A>G | XP_011531245.1:p.Thr245= | |
| XM_011532944.1:c.183A>G | XP_011531246.1:p.Thr61= | |
| XM_011532945.1:c.183A>G | XP_011531247.1:p.Thr61= | |
| XR_939692.1:n.601A>G | ||
| NR_156742.1:n.323A>G | ||
| XM_005264395.4:c.534A>G | XP_005264452.1:p.Thr178= | |
| XM_011532939.3:c.534A>G | XP_011531241.1:p.Thr178= | |
| XM_011532940.3:c.534A>G | XP_011531242.1:p.Thr178= | |
| XM_011532941.2:c.534A>G | XP_011531243.1:p.Thr178= | |
| XM_011532942.3:c.534A>G | XP_011531244.1:p.Thr178= | |
| XM_011532944.2:c.183A>G | XP_011531246.1:p.Thr61= | |
| XM_011532945.2:c.183A>G | XP_011531247.1:p.Thr61= | |
| XM_017004414.2:c.534A>G | XP_016859903.1:p.Thr178= | |
| XM_017004415.2:c.534A>G | XP_016859904.1:p.Thr178= | |
| XM_017004416.1:c.183A>G | XP_016859905.1:p.Thr61= | |
| XR_001738802.2:n.593A>G | ||
| XR_001738803.2:n.593A>G | ||
| XR_002959309.1:n.742+23342A>G | ||
| XR_939692.2:n.593A>G | ||
| NM_001374615.1:c.534A>G | NP_001361544.1:p.Thr178= | |
| NM_018062.4:c.534A>G MANE Select | NP_060532.2:p.Thr178= | |
| NR_164659.1:n.528A>G |