Linked Data
ClinVar Variation Id:
260879
dbSNP Id:
rs745809472
ExAC:
17:56285906 T / C
gnomAD v2:
17-56285906-T-C
gnomAD v4:
17-58208545-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58208545T>C , CM000679.2:g.58208545T>C | GRCh38 |
| NC_000017.10:g.56285906T>C , CM000679.1:g.56285906T>C | GRCh37 |
| NC_000017.9:g.53640905T>C | NCBI36 |
| NG_013032.1:g.16061A>G , LRG_687:g.16061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1063A>G | ENSP00000316631.6:p.Thr355Ala | |
| ENST00000393119.7:c.1063A>G MANE Select | ENSP00000376827.2:p.Thr355Ala | |
| ENST00000537529.7:c.634A>G | ENSP00000442096.3:p.Thr212Ala | |
| ENST00000580127.6:c.1063A>G | ENSP00000462423.2:p.Thr355Ala | |
| ENST00000585134.2:c.1063A>G | ENSP00000463826.2:p.Thr355Ala | |
| ENST00000675753.2:c.*682A>G | ENSP00000502156.1:n.*682A>G | |
| ENST00000676787.1:c.934A>G | ENSP00000503999.1:p.Thr312Ala | |
| ENST00000677111.1:c.954A>G | ENSP00000504282.1:p.Ter318= | |
| ENST00000677160.1:n.2337A>G | ||
| ENST00000677416.1:n.1088A>G | ||
| ENST00000677486.1:c.*407A>G | ENSP00000503852.1:n.*407A>G | |
| ENST00000677709.1:n.1088A>G | ||
| ENST00000678011.1:n.1088A>G | ||
| ENST00000678432.1:c.*682A>G | ENSP00000504452.1:n.*682A>G | |
| ENST00000678463.1:c.1063A>G | ENSP00000502984.1:p.Thr355Ala | |
| ENST00000678568.1:c.*470A>G | ENSP00000504754.1:n.*470A>G | |
| ENST00000678641.1:c.*407A>G | ENSP00000503159.1:n.*407A>G | |
| ENST00000678763.1:n.841A>G | ||
| ENST00000313863.10:c.1063A>G | ENSP00000316631.6:p.Thr355Ala | |
| ENST00000393119.6:c.1063A>G | ENSP00000376827.2:p.Thr355Ala | |
| ENST00000393120.6:c.*470A>G | ENSP00000376828.2:n.*470A>G | |
| ENST00000537529.6:c.1033A>G | ENSP00000442096.2:p.Thr345Ala | |
| ENST00000577315.5:c.116A>G | ||
| ENST00000577824.5:c.540A>G | ||
| ENST00000579358.1:n.501A>G | ||
| ENST00000585134.1:c.286A>G | ENSP00000463826.1:p.Thr96Ala | |
| NM_001165927.1:c.1033A>G , LRG_687t2:c.1033A>G | NP_001159399.1:p.Thr345Ala | |
| NM_017777.3:c.1063A>G , LRG_687t1:c.1063A>G | NP_060247.2:p.Thr355Ala | |
| XM_005257483.3:c.1063A>G | XP_005257540.1:p.Thr355Ala | |
| XM_005257485.3:c.634A>G | XP_005257542.1:p.Thr212Ala | |
| XM_005257486.3:c.454A>G | XP_005257543.1:p.Thr152Ala | |
| XM_006721965.2:c.454A>G | XP_006722028.1:p.Thr152Ala | |
| XM_011524957.1:c.1072A>G | XP_011523259.1:p.Thr358Ala | |
| XM_011524958.1:c.1072A>G | XP_011523260.1:p.Thr358Ala | |
| XM_011524959.1:c.1072A>G | XP_011523261.1:p.Thr358Ala | |
| XM_011524960.1:c.1072A>G | XP_011523262.1:p.Thr358Ala | |
| XR_934494.1:n.1077A>G | ||
| NM_001321268.1:c.454A>G | NP_001308197.1:p.Thr152Ala | |
| NM_001321269.1:c.1063A>G | NP_001308198.1:p.Thr355Ala | |
| NM_001330397.1:c.1063A>G | NP_001317326.1:p.Thr355Ala | |
| XM_005257485.4:c.634A>G | XP_005257542.1:p.Thr212Ala | |
| XM_006721965.3:c.454A>G | XP_006722028.1:p.Thr152Ala | |
| XM_011524957.2:c.1072A>G | XP_011523259.1:p.Thr358Ala | |
| XM_011524958.2:c.1072A>G | XP_011523260.1:p.Thr358Ala | |
| XM_011524959.2:c.1072A>G | XP_011523261.1:p.Thr358Ala | |
| XM_011524960.2:c.1072A>G | XP_011523262.1:p.Thr358Ala | |
| XM_017024804.2:c.1063A>G | XP_016880293.1:p.Thr355Ala | |
| XM_017024805.1:c.634A>G | XP_016880294.1:p.Thr212Ala | |
| XR_002958042.1:n.1074A>G | ||
| NM_001321268.2:c.454A>G | NP_001308197.1:p.Thr152Ala | |
| NM_001321269.2:c.1063A>G | NP_001308198.1:p.Thr355Ala | |
| NM_001330397.2:c.1063A>G | NP_001317326.1:p.Thr355Ala | |
| NM_017777.4:c.1063A>G MANE Select | NP_060247.2:p.Thr355Ala |