Linked Data
ClinVar Variation Id:
128511
ClinVar RCV Id:
RCV000116481
dbSNP Id:
rs1048755
ExAC:
14:92548785 C / T
gnomAD v2:
14-92548785-C-T
gnomAD v3:
14-92082441-C-T
gnomAD v4:
14-92082441-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92082441C>T , CM000676.2:g.92082441C>T | GRCh38 |
| NC_000014.8:g.92548785C>T , CM000676.1:g.92548785C>T | GRCh37 |
| NC_000014.7:g.91618538C>T | NCBI36 |
| NG_008198.2:g.29181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*308G>A | ENSP00000352324.5:n.*308G>A | |
| ENST00000515746.6:c.*93G>A | ENSP00000422073.1:n.*93G>A | |
| ENST00000526872.3:c.506G>A | ||
| ENST00000554672.6:c.97G>A | ENSP00000451417.2:p.Val33Met | |
| ENST00000556082.6:c.*282+685G>A | ENSP00000450492.1:n.*282+685G>A | |
| ENST00000556315.6:c.*308G>A | ENSP00000451132.1:n.*308G>A | |
| ENST00000557030.6:c.436G>A | ENSP00000452139.1:p.Val146Met | |
| ENST00000557311.6:c.97G>A | ENSP00000450642.2:p.Val33Met | |
| ENST00000644486.2:c.634G>A MANE Select | ENSP00000496695.1:p.Val212Met | |
| ENST00000646485.1:c.97G>A | ENSP00000496590.1:p.Val33Met | |
| ENST00000647161.1:c.634G>A | ENSP00000493680.1:p.Val212Met | |
| ENST00000340660.10:c.469G>A | ENSP00000339110.6:p.Val157Met | |
| ENST00000359366.9:c.*308G>A | ENSP00000352324.5:n.*308G>A | |
| ENST00000393287.9:c.481G>A | ENSP00000376965.6:p.Val161Met | |
| ENST00000429774.6:c.424G>A | ENSP00000389376.3:p.Val142Met | |
| ENST00000502250.5:c.97G>A | ENSP00000425322.1:p.Val33Met | |
| ENST00000503767.5:c.589G>A | ENSP00000426697.1:p.Val197Met | |
| ENST00000506466.5:c.436G>A | ENSP00000435571.1:p.Val146Met | |
| ENST00000515746.5:c.*93G>A | ENSP00000422073.1:n.*93G>A | |
| ENST00000526245.1:n.116+6327G>A | ||
| ENST00000526872.2:c.499G>A | ENSP00000474067.1:p.Val167Met | |
| ENST00000532032.5:c.634G>A | ENSP00000437157.1:p.Val212Met | |
| ENST00000545170.5:c.634G>A | ENSP00000445618.2:p.Val212Met | |
| ENST00000553287.5:n.360G>A | ||
| ENST00000553309.5:n.656G>A | ||
| ENST00000553488.5:c.*395G>A | ENSP00000452461.1:n.*395G>A | |
| ENST00000553491.5:c.481G>A | ENSP00000451996.1:p.Val161Met | |
| ENST00000553498.5:n.503G>A | ||
| ENST00000553570.5:c.*93G>A | ENSP00000451405.1:n.*93G>A | |
| ENST00000553686.5:n.503G>A | ||
| ENST00000554040.5:n.379+685G>A | ||
| ENST00000554214.5:n.405G>A | ||
| ENST00000554350.5:c.*234G>A | ENSP00000451103.1:n.*234G>A | |
| ENST00000554491.5:n.656G>A | ||
| ENST00000554592.5:c.631G>A | ENSP00000451385.1:p.Val211Met | |
| ENST00000554672.5:c.340G>A | ENSP00000451417.1:p.Val114Met | |
| ENST00000554673.5:c.*235G>A | ENSP00000452356.1:n.*235G>A | |
| ENST00000554994.5:c.*93G>A | ENSP00000451771.1:n.*93G>A | |
| ENST00000555381.5:c.424G>A | ENSP00000451001.1:p.Val142Met | |
| ENST00000555816.5:c.*282+685G>A | ENSP00000451910.1:n.*282+685G>A | |
| ENST00000555958.5:n.491G>A | ||
| ENST00000556082.5:c.*282+685G>A | ENSP00000450492.1:n.*282+685G>A | |
| ENST00000556220.5:c.316G>A | ENSP00000450641.1:p.Val106Met | |
| ENST00000556274.5:c.*285G>A | ENSP00000451733.1:n.*285G>A | |
| ENST00000556288.5:c.*285G>A | ENSP00000450566.1:n.*285G>A | |
| ENST00000556315.5:c.*308G>A | ENSP00000451132.1:n.*308G>A | |
| ENST00000556339.5:n.409+10811G>A | ||
| ENST00000556374.5:c.*308G>A | ENSP00000451399.1:n.*308G>A | |
| ENST00000556644.5:n.257-11388G>A | ||
| ENST00000556671.5:c.*212G>A | ENSP00000451693.1:n.*212G>A | |
| ENST00000556898.5:c.*131G>A | ENSP00000451769.1:n.*131G>A | |
| ENST00000556958.5:c.*93G>A | ENSP00000452532.1:n.*93G>A | |
| ENST00000557030.5:c.436G>A | ENSP00000452139.1:p.Val146Met | |
| ENST00000557311.5:c.97G>A | ENSP00000450642.1:p.Val33Met | |
| ENST00000558190.5:c.634G>A | ENSP00000478320.1:p.Val212Met | |
| ENST00000617719.4:c.634G>A | ENSP00000481998.1:p.Val212Met | |
| ENST00000620536.4:c.634G>A | ENSP00000484016.1:p.Val212Met | |
| ENST00000621269.4:c.634G>A | ENSP00000481390.1:p.Val212Met | |
| NM_001127696.1:c.589G>A | NP_001121168.1:p.Val197Met | |
| NM_001127697.2:c.481G>A | NP_001121169.2:p.Val161Met | |
| NM_001164774.1:c.190-11388G>A | NP_001158246.1:n.190-11388G>A | |
| NM_001164776.1:c.235-11388G>A | NP_001158248.1:n.235-11388G>A | |
| NM_001164777.1:c.70-11388G>A | NP_001158249.1:n.70-11388G>A | |
| NM_001164778.1:c.387+10811G>A | NP_001158250.1:n.387+10811G>A | |
| NM_001164779.1:c.271G>A | NP_001158251.1:p.Val91Met | |
| NM_001164780.1:c.97G>A | NP_001158252.1:p.Val33Met | |
| NM_001164781.1:c.424G>A | NP_001158253.1:p.Val142Met | |
| NM_001164782.1:c.25-11388G>A | NP_001158254.1:n.25-11388G>A | |
| NM_004993.5:c.634G>A | NP_004984.2:p.Val212Met | |
| NM_030660.4:c.469G>A | NP_109376.1:p.Val157Met | |
| NR_028453.1:n.617G>A | ||
| NR_028454.1:n.452G>A | ||
| NR_028455.1:n.617G>A | ||
| NR_028456.1:n.452G>A | ||
| NR_028457.1:n.708G>A | ||
| NR_028458.1:n.594G>A | ||
| NR_028459.1:n.703G>A | ||
| NR_028460.1:n.370+10811G>A | ||
| NR_028461.1:n.615G>A | ||
| NR_028462.1:n.594G>A | ||
| NR_028463.1:n.252G>A | ||
| NR_028464.1:n.550G>A | ||
| NR_028465.1:n.572G>A | ||
| NR_028466.1:n.252G>A | ||
| NR_028467.1:n.618G>A | ||
| NR_028468.1:n.591+685G>A | ||
| NR_028469.1:n.452G>A | ||
| NR_028470.1:n.160+10811G>A | ||
| NR_031765.1:n.119G>A | ||
| NM_001127696.2:c.589G>A | NP_001121168.1:p.Val197Met | |
| NM_001164774.2:c.190-11388G>A | NP_001158246.1:n.190-11388G>A | |
| NM_001164776.2:c.235-11388G>A | NP_001158248.1:n.235-11388G>A | |
| NM_001164777.2:c.70-11388G>A | NP_001158249.1:n.70-11388G>A | |
| NM_001164778.2:c.387+10811G>A | NP_001158250.1:n.387+10811G>A | |
| NM_001164779.2:c.271G>A | NP_001158251.1:p.Val91Met | |
| NM_001164780.2:c.97G>A | NP_001158252.1:p.Val33Met | |
| NM_001164782.2:c.25-11388G>A | NP_001158254.1:n.25-11388G>A | |
| NM_004993.6:c.634G>A MANE Select | NP_004984.2:p.Val212Met | |
| NM_030660.5:c.469G>A | NP_109376.1:p.Val157Met | |
| NR_028453.2:n.578G>A | ||
| NR_028454.2:n.413G>A | ||
| NR_028455.2:n.578G>A | ||
| NR_028456.2:n.413G>A | ||
| NR_028457.2:n.669G>A | ||
| NR_028458.2:n.555G>A | ||
| NR_028459.2:n.664G>A | ||
| NR_028460.2:n.331+10811G>A | ||
| NR_028461.2:n.576G>A | ||
| NR_028462.2:n.555G>A | ||
| NR_028463.2:n.213G>A | ||
| NR_028464.2:n.511G>A | ||
| NR_028465.2:n.533G>A | ||
| NR_028466.2:n.213G>A | ||
| NR_028467.2:n.579G>A | ||
| NR_028468.2:n.552+685G>A | ||
| NR_028469.2:n.413G>A | ||
| NR_028470.2:n.121+10811G>A | ||
| NR_031765.2:n.80G>A | ||
| NM_001127697.3:c.481G>A | NP_001121169.2:p.Val161Met | |
| NM_001164781.2:c.424G>A | NP_001158253.1:p.Val142Met |