Linked Data
dbSNP Id:
rs17807815
gnomAD v2:
14-92556055-T-C
gnomAD v3:
14-92089711-T-C
gnomAD v4:
14-92089711-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92089711T>C , CM000676.2:g.92089711T>C | GRCh38 |
| NC_000014.8:g.92556055T>C , CM000676.1:g.92556055T>C | GRCh37 |
| NC_000014.7:g.91625808T>C | NCBI36 |
| NG_008198.2:g.21911A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359366.10:c.*62-894A>G | ENSP00000352324.5:n.*62-894A>G | |
| ENST00000515746.6:c.234+6382A>G | ENSP00000422073.1:n.234+6382A>G | |
| ENST00000526872.3:c.370+3541A>G | ||
| ENST00000554672.6:c.-150-894A>G | ENSP00000451417.2:n.-150-894A>G | |
| ENST00000556082.6:c.*62-894A>G | ENSP00000450492.1:n.*62-894A>G | |
| ENST00000556315.6:c.*62-894A>G | ENSP00000451132.1:n.*62-894A>G | |
| ENST00000557030.6:c.190-894A>G | ENSP00000452139.1:n.190-894A>G | |
| ENST00000557311.6:c.-62-6453A>G | ENSP00000450642.2:n.-62-6453A>G | |
| ENST00000644486.2:c.388-894A>G MANE Select | ENSP00000496695.1:n.388-894A>G | |
| ENST00000646485.1:c.-150-894A>G | ENSP00000496590.1:n.-150-894A>G | |
| ENST00000647161.1:c.388-894A>G | ENSP00000493680.1:n.388-894A>G | |
| ENST00000340660.10:c.223-894A>G | ENSP00000339110.6:n.223-894A>G | |
| ENST00000359366.9:c.*62-894A>G | ENSP00000352324.5:n.*62-894A>G | |
| ENST00000393287.9:c.235-894A>G | ENSP00000376965.6:n.235-894A>G | |
| ENST00000429774.6:c.178-894A>G | ENSP00000389376.3:n.178-894A>G | |
| ENST00000502250.5:c.-150-894A>G | ENSP00000425322.1:n.-150-894A>G | |
| ENST00000503767.5:c.343-894A>G | ENSP00000426697.1:n.343-894A>G | |
| ENST00000506466.5:c.190-894A>G | ENSP00000435571.1:n.190-894A>G | |
| ENST00000515746.5:c.234+6382A>G | ENSP00000422073.1:n.234+6382A>G | |
| ENST00000526245.1:n.67-894A>G | ||
| ENST00000526872.2:c.363+3541A>G | ENSP00000474067.1:n.363+3541A>G | |
| ENST00000532032.5:c.388-894A>G | ENSP00000437157.1:n.388-894A>G | |
| ENST00000545170.5:c.388-894A>G | ENSP00000445618.2:n.388-894A>G | |
| ENST00000553287.5:n.114-894A>G | ||
| ENST00000553309.5:n.410-894A>G | ||
| ENST00000553488.5:c.*62-894A>G | ENSP00000452461.1:n.*62-894A>G | |
| ENST00000553491.5:c.235-894A>G | ENSP00000451996.1:n.235-894A>G | |
| ENST00000553498.5:n.257-894A>G | ||
| ENST00000553570.5:c.222+3541A>G | ENSP00000451405.1:n.222+3541A>G | |
| ENST00000553686.5:n.257-894A>G | ||
| ENST00000554040.5:n.159-894A>G | ||
| ENST00000554214.5:n.159-894A>G | ||
| ENST00000554350.5:c.321-894A>G | ENSP00000451103.1:n.321-894A>G | |
| ENST00000554491.5:n.410-894A>G | ||
| ENST00000554592.5:c.385-894A>G | ENSP00000451385.1:n.385-894A>G | |
| ENST00000554672.5:c.94-894A>G | ENSP00000451417.1:n.94-894A>G | |
| ENST00000554673.5:c.388-894A>G | ENSP00000452356.1:n.388-894A>G | |
| ENST00000554994.5:c.387+3541A>G | ENSP00000451771.1:n.387+3541A>G | |
| ENST00000555381.5:c.178-894A>G | ENSP00000451001.1:n.178-894A>G | |
| ENST00000555816.5:c.*62-894A>G | ENSP00000451910.1:n.*62-894A>G | |
| ENST00000555958.5:n.245-894A>G | ||
| ENST00000556082.5:c.*62-894A>G | ENSP00000450492.1:n.*62-894A>G | |
| ENST00000556220.5:c.70-894A>G | ENSP00000450641.1:n.70-894A>G | |
| ENST00000556274.5:c.*62-894A>G | ENSP00000451733.1:n.*62-894A>G | |
| ENST00000556288.5:c.*62-894A>G | ENSP00000450566.1:n.*62-894A>G | |
| ENST00000556315.5:c.*62-894A>G | ENSP00000451132.1:n.*62-894A>G | |
| ENST00000556339.5:n.409+3541A>G | ||
| ENST00000556374.5:c.*62-894A>G | ENSP00000451399.1:n.*62-894A>G | |
| ENST00000556644.5:n.256+6382A>G | ||
| ENST00000556671.5:c.235-894A>G | ENSP00000451693.1:n.235-894A>G | |
| ENST00000556898.5:c.388-894A>G | ENSP00000451769.1:n.388-894A>G | |
| ENST00000556958.5:c.234+6382A>G | ENSP00000452532.1:n.234+6382A>G | |
| ENST00000557030.5:c.190-894A>G | ENSP00000452139.1:n.190-894A>G | |
| ENST00000557311.5:c.-62-6453A>G | ENSP00000450642.1:n.-62-6453A>G | |
| ENST00000558190.5:c.388-894A>G | ENSP00000478320.1:n.388-894A>G | |
| ENST00000617719.4:c.388-894A>G | ENSP00000481998.1:n.388-894A>G | |
| ENST00000620536.4:c.388-894A>G | ENSP00000484016.1:n.388-894A>G | |
| ENST00000621269.4:c.388-894A>G | ENSP00000481390.1:n.388-894A>G | |
| NM_001127696.1:c.343-894A>G | NP_001121168.1:n.343-894A>G | |
| NM_001127697.2:c.235-894A>G | NP_001121169.2:n.235-894A>G | |
| NM_001164774.1:c.189+6963A>G | NP_001158246.1:n.189+6963A>G | |
| NM_001164776.1:c.234+6382A>G | NP_001158248.1:n.234+6382A>G | |
| NM_001164777.1:c.69+6382A>G | NP_001158249.1:n.69+6382A>G | |
| NM_001164778.1:c.387+3541A>G | NP_001158250.1:n.387+3541A>G | |
| NM_001164779.1:c.25-894A>G | NP_001158251.1:n.25-894A>G | |
| NM_001164780.1:c.-150-894A>G | NP_001158252.1:n.-150-894A>G | |
| NM_001164781.1:c.178-894A>G | NP_001158253.1:n.178-894A>G | |
| NM_001164782.1:c.24+16818A>G | NP_001158254.1:n.24+16818A>G | |
| NM_004993.5:c.388-894A>G | NP_004984.2:n.388-894A>G | |
| NM_030660.4:c.223-894A>G | NP_109376.1:n.223-894A>G | |
| NR_028453.1:n.371-894A>G | ||
| NR_028454.1:n.206-894A>G | ||
| NR_028455.1:n.371-894A>G | ||
| NR_028456.1:n.206-894A>G | ||
| NR_028457.1:n.371-894A>G | ||
| NR_028458.1:n.371-894A>G | ||
| NR_028459.1:n.457-894A>G | ||
| NR_028460.1:n.370+3541A>G | ||
| NR_028461.1:n.456+3541A>G | ||
| NR_028462.1:n.371-894A>G | ||
| NR_028463.1:n.94-6453A>G | ||
| NR_028464.1:n.304-894A>G | ||
| NR_028465.1:n.326-894A>G | ||
| NR_028466.1:n.94-6453A>G | ||
| NR_028467.1:n.304-894A>G | ||
| NR_028468.1:n.371-894A>G | ||
| NR_028469.1:n.206-894A>G | ||
| NR_028470.1:n.160+3541A>G | ||
| NR_031765.1:n.94-7245A>G | ||
| NM_001127696.2:c.343-894A>G | NP_001121168.1:n.343-894A>G | |
| NM_001164774.2:c.189+6963A>G | NP_001158246.1:n.189+6963A>G | |
| NM_001164776.2:c.234+6382A>G | NP_001158248.1:n.234+6382A>G | |
| NM_001164777.2:c.69+6382A>G | NP_001158249.1:n.69+6382A>G | |
| NM_001164778.2:c.387+3541A>G | NP_001158250.1:n.387+3541A>G | |
| NM_001164779.2:c.25-894A>G | NP_001158251.1:n.25-894A>G | |
| NM_001164780.2:c.-150-894A>G | NP_001158252.1:n.-150-894A>G | |
| NM_001164782.2:c.24+16818A>G | NP_001158254.1:n.24+16818A>G | |
| NM_004993.6:c.388-894A>G MANE Select | NP_004984.2:n.388-894A>G | |
| NM_030660.5:c.223-894A>G | NP_109376.1:n.223-894A>G | |
| NR_028453.2:n.332-894A>G | ||
| NR_028454.2:n.167-894A>G | ||
| NR_028455.2:n.332-894A>G | ||
| NR_028456.2:n.167-894A>G | ||
| NR_028457.2:n.332-894A>G | ||
| NR_028458.2:n.332-894A>G | ||
| NR_028459.2:n.418-894A>G | ||
| NR_028460.2:n.331+3541A>G | ||
| NR_028461.2:n.417+3541A>G | ||
| NR_028462.2:n.332-894A>G | ||
| NR_028463.2:n.55-6453A>G | ||
| NR_028464.2:n.265-894A>G | ||
| NR_028465.2:n.287-894A>G | ||
| NR_028466.2:n.55-6453A>G | ||
| NR_028467.2:n.265-894A>G | ||
| NR_028468.2:n.332-894A>G | ||
| NR_028469.2:n.167-894A>G | ||
| NR_028470.2:n.121+3541A>G | ||
| NR_031765.2:n.55-7245A>G | ||
| NM_001127697.3:c.235-894A>G | NP_001121169.2:n.235-894A>G | |
| NM_001164781.2:c.178-894A>G | NP_001158253.1:n.178-894A>G |