Linked Data
ClinVar Variation Id:
128513
dbSNP Id:
rs12896588
ExAC:
14:92537387 T / G
gnomAD v2:
14-92537387-T-G
gnomAD v3:
14-92071043-T-G
gnomAD v4:
14-92071043-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92071043T>G , CM000676.2:g.92071043T>G | GRCh38 |
| NC_000014.8:g.92537387T>G , CM000676.1:g.92537387T>G | GRCh37 |
| NC_000014.7:g.91607140T>G | NCBI36 |
| NG_008198.2:g.40579A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*557A>C | ENSP00000352324.5:n.*557A>C | |
| ENST00000554672.6:c.346A>C | ENSP00000451417.2:p.Lys116Gln | |
| ENST00000556082.6:c.*293A>C | ENSP00000450492.1:n.*293A>C | |
| ENST00000556315.6:c.*557A>C | ENSP00000451132.1:n.*557A>C | |
| ENST00000557030.6:c.*78A>C | ENSP00000452139.1:n.*78A>C | |
| ENST00000557311.6:c.346A>C | ENSP00000450642.2:p.Lys116Gln | |
| ENST00000644486.2:c.883A>C MANE Select | ENSP00000496695.1:p.Lys295Gln | |
| ENST00000646485.1:c.*78A>C | ENSP00000496590.1:n.*78A>C | |
| ENST00000647161.1:c.883A>C | ENSP00000493680.1:p.Lys295Gln | |
| ENST00000340660.10:c.718A>C | ENSP00000339110.6:p.Lys240Gln | |
| ENST00000359366.9:c.*557A>C | ENSP00000352324.5:n.*557A>C | |
| ENST00000393287.9:c.730A>C | ENSP00000376965.6:p.Lys244Gln | |
| ENST00000429774.6:c.673A>C | ENSP00000389376.3:p.Lys225Gln | |
| ENST00000502250.5:c.346A>C | ENSP00000425322.1:p.Lys116Gln | |
| ENST00000503767.5:c.838A>C | ENSP00000426697.1:p.Lys280Gln | |
| ENST00000526245.1:n.117-12256A>C | ||
| ENST00000532032.5:c.883A>C | ENSP00000437157.1:p.Lys295Gln | |
| ENST00000545170.5:c.910A>C | ENSP00000445618.2:p.Lys304Gln | |
| ENST00000553287.5:n.621A>C | ||
| ENST00000553309.5:n.917A>C | ||
| ENST00000553488.5:c.*698A>C | ENSP00000452461.1:n.*698A>C | |
| ENST00000553491.5:c.730A>C | ENSP00000451996.1:p.Lys244Gln | |
| ENST00000553498.5:n.806A>C | ||
| ENST00000553570.5:c.*342A>C | ENSP00000451405.1:n.*342A>C | |
| ENST00000553686.5:n.764A>C | ||
| ENST00000554040.5:n.487A>C | ||
| ENST00000554214.5:n.666A>C | ||
| ENST00000554350.5:c.*483A>C | ENSP00000451103.1:n.*483A>C | |
| ENST00000554491.5:n.959A>C | ||
| ENST00000554592.5:c.880A>C | ENSP00000451385.1:p.Lys294Gln | |
| ENST00000554672.5:c.589A>C | ENSP00000451417.1:p.Lys197Gln | |
| ENST00000554994.5:c.*342A>C | ENSP00000451771.1:n.*342A>C | |
| ENST00000555381.5:c.673A>C | ENSP00000451001.1:p.Lys225Gln | |
| ENST00000555816.5:c.*390A>C | ENSP00000451910.1:n.*390A>C | |
| ENST00000555958.5:n.752A>C | ||
| ENST00000556082.5:c.*293A>C | ENSP00000450492.1:n.*293A>C | |
| ENST00000556220.5:c.565A>C | ENSP00000450641.1:p.Lys189Gln | |
| ENST00000556274.5:c.*546A>C | ENSP00000451733.1:n.*546A>C | |
| ENST00000556288.5:c.*534A>C | ENSP00000450566.1:n.*534A>C | |
| ENST00000556315.5:c.*557A>C | ENSP00000451132.1:n.*557A>C | |
| ENST00000556339.5:n.420A>C | ||
| ENST00000556374.5:c.*611A>C | ENSP00000451399.1:n.*611A>C | |
| ENST00000556644.5:n.267A>C | ||
| ENST00000556671.5:c.*461A>C | ENSP00000451693.1:n.*461A>C | |
| ENST00000556898.5:c.*380A>C | ENSP00000451769.1:n.*380A>C | |
| ENST00000556958.5:c.*342A>C | ENSP00000452532.1:n.*342A>C | |
| ENST00000557030.5:c.*78A>C | ENSP00000452139.1:n.*78A>C | |
| ENST00000557311.5:c.346A>C | ENSP00000450642.1:p.Lys116Gln | |
| ENST00000558190.5:c.883A>C | ENSP00000478320.1:p.Lys295Gln | |
| ENST00000617719.4:c.*41A>C | ENSP00000481998.1:n.*41A>C | |
| ENST00000620536.4:c.910A>C | ENSP00000484016.1:p.Lys304Gln | |
| NM_001127696.1:c.838A>C | NP_001121168.1:p.Lys280Gln | |
| NM_001127697.2:c.730A>C | NP_001121169.2:p.Lys244Gln | |
| NM_001164774.1:c.200A>C | NP_001158246.1:p.Lys67Thr | |
| NM_001164776.1:c.245A>C | NP_001158248.1:p.Lys82Thr | |
| NM_001164777.1:c.80A>C | NP_001158249.1:p.Lys27Thr | |
| NM_001164778.1:c.398A>C | NP_001158250.1:p.Lys133Thr | |
| NM_001164779.1:c.520A>C | NP_001158251.1:p.Lys174Gln | |
| NM_001164780.1:c.346A>C | NP_001158252.1:p.Lys116Gln | |
| NM_001164781.1:c.673A>C | NP_001158253.1:p.Lys225Gln | |
| NM_001164782.1:c.35A>C | NP_001158254.1:p.Lys12Thr | |
| NM_004993.5:c.883A>C | NP_004984.2:p.Lys295Gln | |
| NM_030660.4:c.718A>C | NP_109376.1:p.Lys240Gln | |
| NR_028453.1:n.866A>C | ||
| NR_028454.1:n.701A>C | ||
| NR_028455.1:n.920A>C | ||
| NR_028456.1:n.755A>C | ||
| NR_028457.1:n.1011A>C | ||
| NR_028458.1:n.855A>C | ||
| NR_028459.1:n.1006A>C | ||
| NR_028460.1:n.381A>C | ||
| NR_028461.1:n.864A>C | ||
| NR_028462.1:n.843A>C | ||
| NR_028463.1:n.555A>C | ||
| NR_028464.1:n.853A>C | ||
| NR_028465.1:n.875A>C | ||
| NR_028466.1:n.501A>C | ||
| NR_028467.1:n.867A>C | ||
| NR_028468.1:n.699A>C | ||
| NR_028469.1:n.713A>C | ||
| NR_028470.1:n.171A>C | ||
| NR_031765.1:n.368A>C | ||
| NM_001127696.2:c.838A>C | NP_001121168.1:p.Lys280Gln | |
| NM_001164774.2:c.200A>C | NP_001158246.1:p.Lys67Thr | |
| NM_001164776.2:c.245A>C | NP_001158248.1:p.Lys82Thr | |
| NM_001164777.2:c.80A>C | NP_001158249.1:p.Lys27Thr | |
| NM_001164778.2:c.398A>C | NP_001158250.1:p.Lys133Thr | |
| NM_001164779.2:c.520A>C | NP_001158251.1:p.Lys174Gln | |
| NM_001164780.2:c.346A>C | NP_001158252.1:p.Lys116Gln | |
| NM_001164782.2:c.35A>C | NP_001158254.1:p.Lys12Thr | |
| NM_004993.6:c.883A>C MANE Select | NP_004984.2:p.Lys295Gln | |
| NM_030660.5:c.718A>C | NP_109376.1:p.Lys240Gln | |
| NR_028453.2:n.827A>C | ||
| NR_028454.2:n.662A>C | ||
| NR_028455.2:n.881A>C | ||
| NR_028456.2:n.716A>C | ||
| NR_028457.2:n.972A>C | ||
| NR_028458.2:n.816A>C | ||
| NR_028459.2:n.967A>C | ||
| NR_028460.2:n.342A>C | ||
| NR_028461.2:n.825A>C | ||
| NR_028462.2:n.804A>C | ||
| NR_028463.2:n.516A>C | ||
| NR_028464.2:n.814A>C | ||
| NR_028465.2:n.836A>C | ||
| NR_028466.2:n.462A>C | ||
| NR_028467.2:n.828A>C | ||
| NR_028468.2:n.660A>C | ||
| NR_028469.2:n.674A>C | ||
| NR_028470.2:n.132A>C | ||
| NR_031765.2:n.329A>C | ||
| NM_001127697.3:c.730A>C | NP_001121169.2:p.Lys244Gln | |
| NM_001164781.2:c.673A>C | NP_001158253.1:p.Lys225Gln |