Linked Data
ClinVar Variation Id:
128512
dbSNP Id:
rs12896589
ExAC:
14:92537388 T / C
gnomAD v2:
14-92537388-T-C
gnomAD v3:
14-92071044-T-C
gnomAD v4:
14-92071044-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92071044T>C , CM000676.2:g.92071044T>C | GRCh38 |
| NC_000014.8:g.92537388T>C , CM000676.1:g.92537388T>C | GRCh37 |
| NC_000014.7:g.91607141T>C | NCBI36 |
| NG_008198.2:g.40578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*556A>G | ENSP00000352324.5:n.*556A>G | |
| ENST00000554672.6:c.345A>G | ENSP00000451417.2:p.Gln115= | |
| ENST00000556082.6:c.*292A>G | ENSP00000450492.1:n.*292A>G | |
| ENST00000556315.6:c.*556A>G | ENSP00000451132.1:n.*556A>G | |
| ENST00000557030.6:c.*77A>G | ENSP00000452139.1:n.*77A>G | |
| ENST00000557311.6:c.345A>G | ENSP00000450642.2:p.Gln115= | |
| ENST00000644486.2:c.882A>G MANE Select | ENSP00000496695.1:p.Gln294= | |
| ENST00000646485.1:c.*77A>G | ENSP00000496590.1:n.*77A>G | |
| ENST00000647161.1:c.882A>G | ENSP00000493680.1:p.Gln294= | |
| ENST00000340660.10:c.717A>G | ENSP00000339110.6:p.Gln239= | |
| ENST00000359366.9:c.*556A>G | ENSP00000352324.5:n.*556A>G | |
| ENST00000393287.9:c.729A>G | ENSP00000376965.6:p.Gln243= | |
| ENST00000429774.6:c.672A>G | ENSP00000389376.3:p.Gln224= | |
| ENST00000502250.5:c.345A>G | ENSP00000425322.1:p.Gln115= | |
| ENST00000503767.5:c.837A>G | ENSP00000426697.1:p.Gln279= | |
| ENST00000526245.1:n.117-12257A>G | ||
| ENST00000532032.5:c.882A>G | ENSP00000437157.1:p.Gln294= | |
| ENST00000545170.5:c.909A>G | ENSP00000445618.2:p.Gln303= | |
| ENST00000553287.5:n.620A>G | ||
| ENST00000553309.5:n.916A>G | ||
| ENST00000553488.5:c.*697A>G | ENSP00000452461.1:n.*697A>G | |
| ENST00000553491.5:c.729A>G | ENSP00000451996.1:p.Gln243= | |
| ENST00000553498.5:n.805A>G | ||
| ENST00000553570.5:c.*341A>G | ENSP00000451405.1:n.*341A>G | |
| ENST00000553686.5:n.763A>G | ||
| ENST00000554040.5:n.486A>G | ||
| ENST00000554214.5:n.665A>G | ||
| ENST00000554350.5:c.*482A>G | ENSP00000451103.1:n.*482A>G | |
| ENST00000554491.5:n.958A>G | ||
| ENST00000554592.5:c.879A>G | ENSP00000451385.1:p.Gln293= | |
| ENST00000554672.5:c.588A>G | ENSP00000451417.1:p.Gln196= | |
| ENST00000554994.5:c.*341A>G | ENSP00000451771.1:n.*341A>G | |
| ENST00000555381.5:c.672A>G | ENSP00000451001.1:p.Gln224= | |
| ENST00000555816.5:c.*389A>G | ENSP00000451910.1:n.*389A>G | |
| ENST00000555958.5:n.751A>G | ||
| ENST00000556082.5:c.*292A>G | ENSP00000450492.1:n.*292A>G | |
| ENST00000556220.5:c.564A>G | ENSP00000450641.1:p.Gln188= | |
| ENST00000556274.5:c.*545A>G | ENSP00000451733.1:n.*545A>G | |
| ENST00000556288.5:c.*533A>G | ENSP00000450566.1:n.*533A>G | |
| ENST00000556315.5:c.*556A>G | ENSP00000451132.1:n.*556A>G | |
| ENST00000556339.5:n.419A>G | ||
| ENST00000556374.5:c.*610A>G | ENSP00000451399.1:n.*610A>G | |
| ENST00000556644.5:n.266A>G | ||
| ENST00000556671.5:c.*460A>G | ENSP00000451693.1:n.*460A>G | |
| ENST00000556898.5:c.*379A>G | ENSP00000451769.1:n.*379A>G | |
| ENST00000556958.5:c.*341A>G | ENSP00000452532.1:n.*341A>G | |
| ENST00000557030.5:c.*77A>G | ENSP00000452139.1:n.*77A>G | |
| ENST00000557311.5:c.345A>G | ENSP00000450642.1:p.Gln115= | |
| ENST00000558190.5:c.882A>G | ENSP00000478320.1:p.Gln294= | |
| ENST00000617719.4:c.*40A>G | ENSP00000481998.1:n.*40A>G | |
| ENST00000620536.4:c.909A>G | ENSP00000484016.1:p.Gln303= | |
| NM_001127696.1:c.837A>G | NP_001121168.1:p.Gln279= | |
| NM_001127697.2:c.729A>G | NP_001121169.2:p.Gln243= | |
| NM_001164774.1:c.199A>G | NP_001158246.1:p.Lys67Glu | |
| NM_001164776.1:c.244A>G | NP_001158248.1:p.Lys82Glu | |
| NM_001164777.1:c.79A>G | NP_001158249.1:p.Lys27Glu | |
| NM_001164778.1:c.397A>G | NP_001158250.1:p.Lys133Glu | |
| NM_001164779.1:c.519A>G | NP_001158251.1:p.Gln173= | |
| NM_001164780.1:c.345A>G | NP_001158252.1:p.Gln115= | |
| NM_001164781.1:c.672A>G | NP_001158253.1:p.Gln224= | |
| NM_001164782.1:c.34A>G | NP_001158254.1:p.Lys12Glu | |
| NM_004993.5:c.882A>G | NP_004984.2:p.Gln294= | |
| NM_030660.4:c.717A>G | NP_109376.1:p.Gln239= | |
| NR_028453.1:n.865A>G | ||
| NR_028454.1:n.700A>G | ||
| NR_028455.1:n.919A>G | ||
| NR_028456.1:n.754A>G | ||
| NR_028457.1:n.1010A>G | ||
| NR_028458.1:n.854A>G | ||
| NR_028459.1:n.1005A>G | ||
| NR_028460.1:n.380A>G | ||
| NR_028461.1:n.863A>G | ||
| NR_028462.1:n.842A>G | ||
| NR_028463.1:n.554A>G | ||
| NR_028464.1:n.852A>G | ||
| NR_028465.1:n.874A>G | ||
| NR_028466.1:n.500A>G | ||
| NR_028467.1:n.866A>G | ||
| NR_028468.1:n.698A>G | ||
| NR_028469.1:n.712A>G | ||
| NR_028470.1:n.170A>G | ||
| NR_031765.1:n.367A>G | ||
| NM_001127696.2:c.837A>G | NP_001121168.1:p.Gln279= | |
| NM_001164774.2:c.199A>G | NP_001158246.1:p.Lys67Glu | |
| NM_001164776.2:c.244A>G | NP_001158248.1:p.Lys82Glu | |
| NM_001164777.2:c.79A>G | NP_001158249.1:p.Lys27Glu | |
| NM_001164778.2:c.397A>G | NP_001158250.1:p.Lys133Glu | |
| NM_001164779.2:c.519A>G | NP_001158251.1:p.Gln173= | |
| NM_001164780.2:c.345A>G | NP_001158252.1:p.Gln115= | |
| NM_001164782.2:c.34A>G | NP_001158254.1:p.Lys12Glu | |
| NM_004993.6:c.882A>G MANE Select | NP_004984.2:p.Gln294= | |
| NM_030660.5:c.717A>G | NP_109376.1:p.Gln239= | |
| NR_028453.2:n.826A>G | ||
| NR_028454.2:n.661A>G | ||
| NR_028455.2:n.880A>G | ||
| NR_028456.2:n.715A>G | ||
| NR_028457.2:n.971A>G | ||
| NR_028458.2:n.815A>G | ||
| NR_028459.2:n.966A>G | ||
| NR_028460.2:n.341A>G | ||
| NR_028461.2:n.824A>G | ||
| NR_028462.2:n.803A>G | ||
| NR_028463.2:n.515A>G | ||
| NR_028464.2:n.813A>G | ||
| NR_028465.2:n.835A>G | ||
| NR_028466.2:n.461A>G | ||
| NR_028467.2:n.827A>G | ||
| NR_028468.2:n.659A>G | ||
| NR_028469.2:n.673A>G | ||
| NR_028470.2:n.131A>G | ||
| NR_031765.2:n.328A>G | ||
| NM_001127697.3:c.729A>G | NP_001121169.2:p.Gln243= | |
| NM_001164781.2:c.672A>G | NP_001158253.1:p.Gln224= |