Linked Data
ClinVar Variation Id:
221092
dbSNP Id:
rs55849827
ExAC:
2:58459232 G / A
gnomAD v2:
2-58459232-G-A
gnomAD v3:
2-58232097-G-A
gnomAD v4:
2-58232097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58232097G>A , CM000664.2:g.58232097G>A | GRCh38 |
| NC_000002.11:g.58459232G>A , CM000664.1:g.58459232G>A | GRCh37 |
| NC_000002.10:g.58312736G>A | NCBI36 |
| NG_007418.1:g.14283C>T , LRG_501:g.14283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.112C>T | ENSP00000385021.3:p.Leu38Phe | |
| ENST00000403295.8:c.112C>T | ENSP00000386097.3:p.Leu38Phe | |
| ENST00000403676.6:c.96+9121C>T | ENSP00000384046.2:n.96+9121C>T | |
| ENST00000417361.2:c.96+9121C>T | ENSP00000389448.2:n.96+9121C>T | |
| ENST00000427708.7:c.112C>T | ENSP00000400969.3:p.Leu38Phe | |
| ENST00000446381.6:c.96+9121C>T | ENSP00000390991.2:n.96+9121C>T | |
| ENST00000449070.6:c.96+9121C>T | ENSP00000401280.2:n.96+9121C>T | |
| ENST00000470506.2:n.171C>T | ||
| ENST00000481670.3:c.112C>T | ENSP00000483263.2:p.Leu38Phe | |
| ENST00000696305.1:c.112C>T | ENSP00000512543.1:p.Leu38Phe | |
| ENST00000696306.1:c.112C>T | ENSP00000512544.1:p.Leu38Phe | |
| ENST00000696307.1:c.112C>T | ENSP00000512545.1:p.Leu38Phe | |
| ENST00000696308.1:c.112C>T | ENSP00000512546.1:p.Leu38Phe | |
| ENST00000696314.1:c.112C>T | ENSP00000512552.1:p.Leu38Phe | |
| ENST00000696315.1:c.96+9121C>T | ENSP00000512553.1:n.96+9121C>T | |
| ENST00000696316.1:c.112C>T | ENSP00000512554.1:p.Leu38Phe | |
| ENST00000696317.1:c.112C>T | ENSP00000512555.1:p.Leu38Phe | |
| ENST00000696318.1:c.96+9121C>T | ENSP00000512556.1:n.96+9121C>T | |
| ENST00000696319.1:c.112C>T | ENSP00000512557.1:p.Leu38Phe | |
| ENST00000696320.1:n.124C>T | ||
| ENST00000696321.1:c.96+9121C>T | ENSP00000512558.1:n.96+9121C>T | |
| ENST00000696324.1:c.96+9121C>T | ENSP00000512561.1:n.96+9121C>T | |
| ENST00000696325.1:n.151C>T | ||
| ENST00000696326.1:c.112C>T | ENSP00000512562.1:p.Leu38Phe | |
| ENST00000696338.1:n.145C>T | ||
| ENST00000696340.1:n.132C>T | ||
| ENST00000696341.1:n.180C>T | ||
| ENST00000696342.1:c.96+9121C>T | ENSP00000512569.1:n.96+9121C>T | |
| ENST00000696344.1:c.112C>T | ENSP00000512570.1:p.Leu38Phe | |
| ENST00000696345.1:n.124C>T | ||
| ENST00000696346.1:n.108+9121C>T | ||
| ENST00000696347.1:c.112C>T | ENSP00000512571.1:p.Leu38Phe | |
| ENST00000696358.1:n.124C>T | ||
| ENST00000696361.1:c.96+9121C>T | ENSP00000512579.1:n.96+9121C>T | |
| ENST00000696362.1:c.112C>T | ENSP00000512580.1:p.Leu38Phe | |
| ENST00000696364.1:n.122C>T | ||
| ENST00000696371.1:c.112C>T | ENSP00000512586.1:p.Leu38Phe | |
| ENST00000696373.1:c.96+9121C>T | ENSP00000512587.1:n.96+9121C>T | |
| ENST00000696374.1:c.112C>T | ENSP00000512588.1:p.Leu38Phe | |
| ENST00000696377.1:n.160+9121C>T | ||
| ENST00000696378.1:c.96+9121C>T | ENSP00000512589.1:n.96+9121C>T | |
| ENST00000696379.1:c.96+9121C>T | ENSP00000512590.1:n.96+9121C>T | |
| ENST00000696394.1:n.145C>T | ||
| ENST00000696395.1:n.108+9121C>T | ||
| ENST00000696398.1:c.112C>T | ENSP00000512604.1:p.Leu38Phe | |
| ENST00000696399.1:n.147+9121C>T | ||
| ENST00000696400.1:c.112C>T | ENSP00000512605.1:p.Leu38Phe | |
| ENST00000696403.1:c.112C>T | ENSP00000512606.1:p.Leu38Phe | |
| ENST00000696404.1:n.124C>T | ||
| ENST00000696409.1:c.96+9121C>T | ENSP00000512610.1:n.96+9121C>T | |
| ENST00000696410.1:c.96+9121C>T | ENSP00000512611.1:n.96+9121C>T | |
| ENST00000696411.1:n.164+9121C>T | ||
| ENST00000696415.1:c.112C>T | ENSP00000512612.1:p.Leu38Phe | |
| ENST00000696416.1:n.108+9121C>T | ||
| ENST00000696417.1:c.112C>T | ENSP00000512613.1:p.Leu38Phe | |
| ENST00000696418.1:c.112C>T | ENSP00000512614.1:p.Leu38Phe | |
| ENST00000696419.1:n.54C>T | ||
| ENST00000696433.1:c.96+9121C>T | ENSP00000512627.1:n.96+9121C>T | |
| ENST00000696434.1:c.96+9121C>T | ENSP00000512628.1:n.96+9121C>T | |
| ENST00000696435.1:c.96+9121C>T | ENSP00000512629.1:n.96+9121C>T | |
| ENST00000696438.1:c.97-2223C>T | ENSP00000512630.1:n.97-2223C>T | |
| ENST00000696454.1:c.96+9121C>T | ENSP00000512641.1:n.96+9121C>T | |
| ENST00000696455.1:c.96+9121C>T | ENSP00000512642.1:n.96+9121C>T | |
| ENST00000696457.1:c.96+9121C>T | ENSP00000512643.1:n.96+9121C>T | |
| ENST00000696458.1:c.112C>T | ENSP00000512644.1:p.Leu38Phe | |
| ENST00000696459.1:c.96+9121C>T | ENSP00000512645.1:n.96+9121C>T | |
| ENST00000696460.1:n.124C>T | ||
| ENST00000696461.1:c.112C>T | ENSP00000512646.1:p.Leu38Phe | |
| ENST00000696467.1:c.96+9121C>T | ENSP00000512648.1:n.96+9121C>T | |
| ENST00000696468.1:c.112C>T | ENSP00000512649.1:p.Leu38Phe | |
| ENST00000696469.1:c.112C>T | ENSP00000512650.1:p.Leu38Phe | |
| ENST00000696472.1:c.112C>T | ENSP00000512651.1:p.Leu38Phe | |
| ENST00000696473.1:c.112C>T | ENSP00000512652.1:p.Leu38Phe | |
| ENST00000696476.1:c.112C>T | ENSP00000512653.1:p.Leu38Phe | |
| ENST00000696477.1:n.54C>T | ||
| ENST00000696478.1:c.112C>T | ENSP00000512654.1:p.Leu38Phe | |
| ENST00000696492.1:c.112C>T | ENSP00000512662.1:p.Leu38Phe | |
| ENST00000696493.1:c.97-2223C>T | ENSP00000512663.1:n.97-2223C>T | |
| ENST00000696495.1:c.112C>T | ENSP00000512664.1:p.Leu38Phe | |
| ENST00000696496.1:n.151C>T | ||
| ENST00000696499.1:c.112C>T | ENSP00000512665.1:p.Leu38Phe | |
| ENST00000696508.1:c.96+9121C>T | ENSP00000512674.1:n.96+9121C>T | |
| ENST00000696509.1:c.112C>T | ENSP00000512675.1:p.Leu38Phe | |
| ENST00000696510.1:c.96+9121C>T | ENSP00000512676.1:n.96+9121C>T | |
| ENST00000696511.1:c.112C>T | ENSP00000512677.1:p.Leu38Phe | |
| ENST00000696527.1:c.112C>T | ENSP00000512690.1:p.Leu38Phe | |
| ENST00000696528.1:c.112C>T | ENSP00000512691.1:p.Leu38Phe | |
| ENST00000696530.1:c.112C>T | ENSP00000512692.1:p.Leu38Phe | |
| ENST00000696531.1:c.96+9121C>T | ENSP00000512693.1:n.96+9121C>T | |
| ENST00000696542.1:n.38+9121C>T | ||
| ENST00000696543.1:c.96+9121C>T | ENSP00000512703.1:n.96+9121C>T | |
| ENST00000696544.1:c.97-5313C>T | ENSP00000512704.1:n.97-5313C>T | |
| ENST00000696545.1:c.112C>T | ENSP00000512705.1:p.Leu38Phe | |
| ENST00000696546.1:c.112C>T | ENSP00000512706.1:p.Leu38Phe | |
| ENST00000696547.1:c.112C>T | ENSP00000512707.1:p.Leu38Phe | |
| ENST00000696548.1:c.112C>T | ENSP00000512708.1:p.Leu38Phe | |
| ENST00000696549.1:c.112C>T | ENSP00000512709.1:p.Leu38Phe | |
| ENST00000696550.1:c.112C>T | ENSP00000512710.1:p.Leu38Phe | |
| ENST00000696551.1:c.112C>T | ENSP00000512711.1:p.Leu38Phe | |
| ENST00000696564.1:c.112C>T | ENSP00000512722.1:p.Leu38Phe | |
| ENST00000696565.1:c.112C>T | ENSP00000512723.1:p.Leu38Phe | |
| ENST00000696566.1:n.54C>T | ||
| ENST00000696567.1:c.112C>T | ENSP00000512724.1:p.Leu38Phe | |
| ENST00000696569.1:n.125C>T | ||
| ENST00000696570.1:c.112C>T | ENSP00000512725.1:p.Leu38Phe | |
| ENST00000696594.1:c.112C>T | ENSP00000512739.1:p.Leu38Phe | |
| ENST00000696595.1:c.112C>T | ENSP00000512740.1:p.Leu38Phe | |
| ENST00000696596.1:c.96+9121C>T | ENSP00000512741.1:n.96+9121C>T | |
| ENST00000696597.1:c.96+9121C>T | ENSP00000512742.1:n.96+9121C>T | |
| ENST00000696598.1:c.112C>T | ENSP00000512743.1:p.Leu38Phe | |
| ENST00000696620.1:c.112C>T | ENSP00000512759.1:p.Leu38Phe | |
| ENST00000696621.1:c.112C>T | ENSP00000512760.1:p.Leu38Phe | |
| ENST00000696622.1:n.131C>T | ||
| ENST00000696623.1:n.54C>T | ||
| ENST00000696624.1:c.112C>T | ENSP00000512761.1:p.Leu38Phe | |
| ENST00000696625.1:c.112C>T | ENSP00000512762.1:p.Leu38Phe | |
| ENST00000696634.1:c.96+9121C>T | ENSP00000512770.1:n.96+9121C>T | |
| ENST00000696635.1:c.112C>T | ENSP00000512771.1:p.Leu38Phe | |
| ENST00000233741.9:c.112C>T MANE Select | ENSP00000233741.5:p.Leu38Phe | |
| ENST00000233741.8:c.112C>T | ENSP00000233741.4:p.Leu38Phe | |
| ENST00000402135.7:c.112C>T | ENSP00000385021.3:p.Leu38Phe | |
| ENST00000403295.7:c.112C>T | ENSP00000386097.3:p.Leu38Phe | |
| ENST00000403676.5:c.23+9121C>T | ENSP00000384046.1:n.23+9121C>T | |
| ENST00000417361.1:c.23+9121C>T | ENSP00000389448.1:n.23+9121C>T | |
| ENST00000427708.6:c.110C>T | ||
| ENST00000446381.5:c.96+9121C>T | ENSP00000390991.1:n.96+9121C>T | |
| ENST00000449070.5:c.96+9121C>T | ENSP00000401280.1:n.96+9121C>T | |
| ENST00000481670.2:c.58C>T | ENSP00000483263.1:p.Leu20Phe | |
| NM_001114636.1:c.112C>T , LRG_501t1:c.112C>T | NP_001108108.1:p.Leu38Phe | |
| NM_018062.3:c.112C>T , LRG_501t2:c.112C>T | NP_060532.2:p.Leu38Phe | |
| XM_005264395.2:c.112C>T | XP_005264452.1:p.Leu38Phe | |
| XM_005264397.3:c.23+9121C>T | XP_005264454.1:n.23+9121C>T | |
| XM_011532939.1:c.112C>T | XP_011531241.1:p.Leu38Phe | |
| XM_011532940.1:c.112C>T | XP_011531242.1:p.Leu38Phe | |
| XM_011532941.1:c.112C>T | XP_011531243.1:p.Leu38Phe | |
| XM_011532942.1:c.112C>T | XP_011531244.1:p.Leu38Phe | |
| XM_011532943.1:c.370C>T | XP_011531245.1:p.Leu124Phe | |
| XM_011532944.1:c.23+9121C>T | XP_011531246.1:n.23+9121C>T | |
| XM_011532945.1:c.23+9121C>T | XP_011531247.1:n.23+9121C>T | |
| XR_939692.1:n.179C>T | ||
| NR_156742.1:n.163+9121C>T | ||
| XM_005264395.4:c.112C>T | XP_005264452.1:p.Leu38Phe | |
| XM_011532939.3:c.112C>T | XP_011531241.1:p.Leu38Phe | |
| XM_011532940.3:c.112C>T | XP_011531242.1:p.Leu38Phe | |
| XM_011532941.2:c.112C>T | XP_011531243.1:p.Leu38Phe | |
| XM_011532942.3:c.112C>T | XP_011531244.1:p.Leu38Phe | |
| XM_011532944.2:c.23+9121C>T | XP_011531246.1:n.23+9121C>T | |
| XM_011532945.2:c.23+9121C>T | XP_011531247.1:n.23+9121C>T | |
| XM_017004414.2:c.112C>T | XP_016859903.1:p.Leu38Phe | |
| XM_017004415.2:c.112C>T | XP_016859904.1:p.Leu38Phe | |
| XM_017004416.1:c.23+9121C>T | XP_016859905.1:n.23+9121C>T | |
| XR_001738802.2:n.171C>T | ||
| XR_001738803.2:n.171C>T | ||
| XR_002959309.1:n.480C>T | ||
| XR_939692.2:n.171C>T | ||
| NM_001374615.1:c.112C>T | NP_001361544.1:p.Leu38Phe | |
| NM_018062.4:c.112C>T MANE Select | NP_060532.2:p.Leu38Phe | |
| NR_164659.1:n.106C>T |