Linked Data
ClinVar Variation Id:
128514
dbSNP Id:
rs12896583
ExAC:
14:92537379 T / C
gnomAD v2:
14-92537379-T-C
gnomAD v3:
14-92071035-T-C
gnomAD v4:
14-92071035-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92071035T>C , CM000676.2:g.92071035T>C | GRCh38 |
| NC_000014.8:g.92537379T>C , CM000676.1:g.92537379T>C | GRCh37 |
| NC_000014.7:g.91607132T>C | NCBI36 |
| NG_008198.2:g.40587A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*565A>G | ENSP00000352324.5:n.*565A>G | |
| ENST00000554672.6:c.354A>G | ENSP00000451417.2:p.Gln118= | |
| ENST00000556082.6:c.*301A>G | ENSP00000450492.1:n.*301A>G | |
| ENST00000556315.6:c.*565A>G | ENSP00000451132.1:n.*565A>G | |
| ENST00000557030.6:c.*86A>G | ENSP00000452139.1:n.*86A>G | |
| ENST00000557311.6:c.354A>G | ENSP00000450642.2:p.Gln118= | |
| ENST00000644486.2:c.891A>G MANE Select | ENSP00000496695.1:p.Gln297= | |
| ENST00000646485.1:c.*86A>G | ENSP00000496590.1:n.*86A>G | |
| ENST00000647161.1:c.891A>G | ENSP00000493680.1:p.Gln297= | |
| ENST00000340660.10:c.726A>G | ENSP00000339110.6:p.Gln242= | |
| ENST00000359366.9:c.*565A>G | ENSP00000352324.5:n.*565A>G | |
| ENST00000393287.9:c.738A>G | ENSP00000376965.6:p.Gln246= | |
| ENST00000429774.6:c.681A>G | ENSP00000389376.3:p.Gln227= | |
| ENST00000502250.5:c.354A>G | ENSP00000425322.1:p.Gln118= | |
| ENST00000503767.5:c.846A>G | ENSP00000426697.1:p.Gln282= | |
| ENST00000526245.1:n.117-12248A>G | ||
| ENST00000532032.5:c.891A>G | ENSP00000437157.1:p.Gln297= | |
| ENST00000545170.5:c.918A>G | ENSP00000445618.2:p.Gln306= | |
| ENST00000553287.5:n.629A>G | ||
| ENST00000553309.5:n.925A>G | ||
| ENST00000553488.5:c.*706A>G | ENSP00000452461.1:n.*706A>G | |
| ENST00000553491.5:c.738A>G | ENSP00000451996.1:p.Gln246= | |
| ENST00000553498.5:n.814A>G | ||
| ENST00000553570.5:c.*350A>G | ENSP00000451405.1:n.*350A>G | |
| ENST00000553686.5:n.772A>G | ||
| ENST00000554040.5:n.495A>G | ||
| ENST00000554214.5:n.674A>G | ||
| ENST00000554350.5:c.*491A>G | ENSP00000451103.1:n.*491A>G | |
| ENST00000554491.5:n.967A>G | ||
| ENST00000554592.5:c.888A>G | ENSP00000451385.1:p.Gln296= | |
| ENST00000554672.5:c.597A>G | ENSP00000451417.1:p.Gln199= | |
| ENST00000554994.5:c.*350A>G | ENSP00000451771.1:n.*350A>G | |
| ENST00000555381.5:c.681A>G | ENSP00000451001.1:p.Gln227= | |
| ENST00000555816.5:c.*398A>G | ENSP00000451910.1:n.*398A>G | |
| ENST00000555958.5:n.760A>G | ||
| ENST00000556082.5:c.*301A>G | ENSP00000450492.1:n.*301A>G | |
| ENST00000556220.5:c.573A>G | ENSP00000450641.1:p.Gln191= | |
| ENST00000556274.5:c.*554A>G | ENSP00000451733.1:n.*554A>G | |
| ENST00000556288.5:c.*542A>G | ENSP00000450566.1:n.*542A>G | |
| ENST00000556315.5:c.*565A>G | ENSP00000451132.1:n.*565A>G | |
| ENST00000556339.5:n.428A>G | ||
| ENST00000556374.5:c.*619A>G | ENSP00000451399.1:n.*619A>G | |
| ENST00000556644.5:n.275A>G | ||
| ENST00000556671.5:c.*469A>G | ENSP00000451693.1:n.*469A>G | |
| ENST00000556898.5:c.*388A>G | ENSP00000451769.1:n.*388A>G | |
| ENST00000556958.5:c.*350A>G | ENSP00000452532.1:n.*350A>G | |
| ENST00000557030.5:c.*86A>G | ENSP00000452139.1:n.*86A>G | |
| ENST00000557311.5:c.354A>G | ENSP00000450642.1:p.Gln118= | |
| ENST00000558190.5:c.891A>G | ENSP00000478320.1:p.Gln297= | |
| ENST00000617719.4:c.*49A>G | ENSP00000481998.1:n.*49A>G | |
| ENST00000620536.4:c.918A>G | ENSP00000484016.1:p.Gln306= | |
| ENST00000624063.1:c.56T>C | ENSP00000485197.1:p.Val19Ala | |
| NM_001127696.1:c.846A>G | NP_001121168.1:p.Gln282= | |
| NM_001127697.2:c.738A>G | NP_001121169.2:p.Gln246= | |
| NM_001164774.1:c.208A>G | NP_001158246.1:p.Thr70Ala | |
| NM_001164776.1:c.253A>G | NP_001158248.1:p.Thr85Ala | |
| NM_001164777.1:c.88A>G | NP_001158249.1:p.Thr30Ala | |
| NM_001164778.1:c.406A>G | NP_001158250.1:p.Thr136Ala | |
| NM_001164779.1:c.528A>G | NP_001158251.1:p.Gln176= | |
| NM_001164780.1:c.354A>G | NP_001158252.1:p.Gln118= | |
| NM_001164781.1:c.681A>G | NP_001158253.1:p.Gln227= | |
| NM_001164782.1:c.43A>G | NP_001158254.1:p.Thr15Ala | |
| NM_004993.5:c.891A>G | NP_004984.2:p.Gln297= | |
| NM_030660.4:c.726A>G | NP_109376.1:p.Gln242= | |
| NR_028453.1:n.874A>G | ||
| NR_028454.1:n.709A>G | ||
| NR_028455.1:n.928A>G | ||
| NR_028456.1:n.763A>G | ||
| NR_028457.1:n.1019A>G | ||
| NR_028458.1:n.863A>G | ||
| NR_028459.1:n.1014A>G | ||
| NR_028460.1:n.389A>G | ||
| NR_028461.1:n.872A>G | ||
| NR_028462.1:n.851A>G | ||
| NR_028463.1:n.563A>G | ||
| NR_028464.1:n.861A>G | ||
| NR_028465.1:n.883A>G | ||
| NR_028466.1:n.509A>G | ||
| NR_028467.1:n.875A>G | ||
| NR_028468.1:n.707A>G | ||
| NR_028469.1:n.721A>G | ||
| NR_028470.1:n.179A>G | ||
| NR_031765.1:n.376A>G | ||
| NM_001127696.2:c.846A>G | NP_001121168.1:p.Gln282= | |
| NM_001164774.2:c.208A>G | NP_001158246.1:p.Thr70Ala | |
| NM_001164776.2:c.253A>G | NP_001158248.1:p.Thr85Ala | |
| NM_001164777.2:c.88A>G | NP_001158249.1:p.Thr30Ala | |
| NM_001164778.2:c.406A>G | NP_001158250.1:p.Thr136Ala | |
| NM_001164779.2:c.528A>G | NP_001158251.1:p.Gln176= | |
| NM_001164780.2:c.354A>G | NP_001158252.1:p.Gln118= | |
| NM_001164782.2:c.43A>G | NP_001158254.1:p.Thr15Ala | |
| NM_004993.6:c.891A>G MANE Select | NP_004984.2:p.Gln297= | |
| NM_030660.5:c.726A>G | NP_109376.1:p.Gln242= | |
| NR_028453.2:n.835A>G | ||
| NR_028454.2:n.670A>G | ||
| NR_028455.2:n.889A>G | ||
| NR_028456.2:n.724A>G | ||
| NR_028457.2:n.980A>G | ||
| NR_028458.2:n.824A>G | ||
| NR_028459.2:n.975A>G | ||
| NR_028460.2:n.350A>G | ||
| NR_028461.2:n.833A>G | ||
| NR_028462.2:n.812A>G | ||
| NR_028463.2:n.524A>G | ||
| NR_028464.2:n.822A>G | ||
| NR_028465.2:n.844A>G | ||
| NR_028466.2:n.470A>G | ||
| NR_028467.2:n.836A>G | ||
| NR_028468.2:n.668A>G | ||
| NR_028469.2:n.682A>G | ||
| NR_028470.2:n.140A>G | ||
| NR_031765.2:n.337A>G | ||
| NM_001127697.3:c.738A>G | NP_001121169.2:p.Gln246= | |
| NM_001164781.2:c.681A>G | NP_001158253.1:p.Gln227= |