Linked Data
ClinVar Variation Id:
1029917
dbSNP Id:
rs549442380
ExAC:
11:78189705 T / C
gnomAD v2:
11-78189705-T-C
gnomAD v3:
11-78478659-T-C
gnomAD v4:
11-78478659-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78478659T>C , CM000673.2:g.78478659T>C | GRCh38 |
| NC_000011.9:g.78189705T>C , CM000673.1:g.78189705T>C | GRCh37 |
| NC_000011.8:g.77867353T>C | NCBI36 |
| NG_042046.1:g.101206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525345.6:n.337A>G | ||
| ENST00000529771.2:c.166A>G | ENSP00000435298.2:p.Thr56Ala | |
| ENST00000695114.1:n.3508A>G | ||
| ENST00000695115.1:c.166A>G | ENSP00000511705.1:p.Thr56Ala | |
| ENST00000695116.1:c.142-9346A>G | ENSP00000511706.1:n.142-9346A>G | |
| ENST00000695341.1:c.*517A>G | ENSP00000511816.1:n.*517A>G | |
| ENST00000695342.1:c.166A>G | ENSP00000511817.1:p.Thr56Ala | |
| ENST00000695343.1:c.166A>G | ENSP00000511818.1:p.Thr56Ala | |
| ENST00000695344.1:c.766A>G | ENSP00000511819.1:p.Thr256Ala | |
| ENST00000695345.1:c.166A>G | ENSP00000511820.1:p.Thr56Ala | |
| ENST00000695346.1:c.*264A>G | ENSP00000511821.1:n.*264A>G | |
| ENST00000695347.1:c.*319A>G | ENSP00000511822.1:n.*319A>G | |
| ENST00000695348.1:c.166A>G | ENSP00000511823.1:p.Thr56Ala | |
| ENST00000695349.1:c.847A>G | ENSP00000511824.1:p.Thr283Ala | |
| ENST00000695350.1:c.*18A>G | ENSP00000511825.1:n.*18A>G | |
| ENST00000695351.1:c.823-12646A>G | ENSP00000511826.1:n.823-12646A>G | |
| ENST00000695352.1:c.-6A>G | ENSP00000511827.1:n.-6A>G | |
| ENST00000695353.1:c.-105-12646A>G | ENSP00000511828.1:n.-105-12646A>G | |
| ENST00000695354.1:c.847A>G | ENSP00000511829.1:p.Thr283Ala | |
| ENST00000695355.1:c.847A>G | ENSP00000511830.1:p.Thr283Ala | |
| ENST00000695356.1:c.*828A>G | ENSP00000511831.1:n.*828A>G | |
| ENST00000695357.1:c.847A>G | ENSP00000511832.1:p.Thr283Ala | |
| ENST00000695358.1:c.847A>G | ENSP00000511833.1:p.Thr283Ala | |
| ENST00000695359.1:c.*504A>G | ENSP00000511834.1:n.*504A>G | |
| ENST00000695360.1:c.847A>G | ENSP00000511835.1:p.Thr283Ala | |
| ENST00000695361.1:c.*89-9346A>G | ENSP00000511836.1:n.*89-9346A>G | |
| ENST00000695362.1:c.*167A>G | ENSP00000511837.1:n.*167A>G | |
| ENST00000695364.1:n.1185A>G | ||
| ENST00000695365.1:n.1137A>G | ||
| ENST00000695366.1:c.847A>G | ENSP00000511838.1:p.Thr283Ala | |
| ENST00000281038.10:c.847A>G MANE Select | ENSP00000281038.5:p.Thr283Ala | |
| ENST00000281038.9:c.847A>G | ENSP00000281038.5:p.Thr283Ala | |
| ENST00000525345.5:c.337A>G | ||
| ENST00000528850.5:c.166A>G | ENSP00000432635.1:p.Thr56Ala | |
| ENST00000529880.1:c.595-12646A>G | ENSP00000432240.1:n.595-12646A>G | |
| NM_001243251.1:c.166A>G | NP_001230180.1:p.Thr56Ala | |
| NM_024678.5:c.847A>G | NP_078954.4:p.Thr283Ala | |
| XM_011545253.1:c.847A>G | XP_011543555.1:p.Thr283Ala | |
| XR_950050.1:n.1216A>G | ||
| XR_950051.1:n.1216A>G | ||
| XR_950344.1:n.199+3782T>C | ||
| XR_950345.1:n.151+5363T>C | ||
| XM_011545253.2:c.847A>G | XP_011543555.1:p.Thr283Ala | |
| XM_017018302.2:c.847A>G | XP_016873791.1:p.Thr283Ala | |
| XM_017018303.1:c.166A>G | XP_016873792.1:p.Thr56Ala | |
| XM_017018304.2:c.166A>G | XP_016873793.1:p.Thr56Ala | |
| XR_001747963.2:n.1201A>G | ||
| XR_001747964.2:n.1201A>G | ||
| XR_001747965.2:n.1201A>G | ||
| XR_001747966.2:n.1201A>G | ||
| XR_001748314.1:n.3035+3782T>C | ||
| NM_024678.6:c.847A>G MANE Select | NP_078954.4:p.Thr283Ala | |
| NM_001243251.2:c.166A>G | NP_001230180.1:p.Thr56Ala |