Linked Data
ClinVar Variation Id:
227840
dbSNP Id:
rs201534861
ExAC:
10:55583023 T / C
gnomAD v2:
10-55583023-T-C
gnomAD v3:
10-53823263-T-C
gnomAD v4:
10-53823263-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823263T>C , CM000672.2:g.53823263T>C | GRCh38 |
| NC_000010.10:g.55583023T>C , CM000672.1:g.55583023T>C | GRCh37 |
| NC_000010.9:g.55253029T>C | NCBI36 |
| NG_009191.2:g.983029A>G | |
| NG_009191.3:g.1810920A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1873A>G | ENSP00000482794.1:n.4409+1873A>G | |
| ENST00000320301.11:c.4463A>G MANE Plus Clinical | ENSP00000322604.6:p.Asn1488Ser | |
| ENST00000395445.6:c.4388+4130A>G | ENSP00000378832.2:n.4388+4130A>G | |
| ENST00000613657.5:c.4409+1873A>G | ENSP00000482794.1:n.4409+1873A>G | |
| ENST00000642496.1:c.3227-3033A>G | ||
| ENST00000644397.2:c.4368-3033A>G MANE Select | ENSP00000495195.1:n.4368-3033A>G | |
| ENST00000320301.10:c.4463A>G | ENSP00000322604.6:p.Asn1488Ser | |
| ENST00000361849.7:c.4469A>G | ENSP00000354950.3:p.Asn1490Ser | |
| ENST00000373956.7:c.*2418A>G | ENSP00000363067.4:n.*2418A>G | |
| ENST00000373957.7:c.4484A>G | ENSP00000363068.4:p.Asn1495Ser | |
| ENST00000373965.6:c.4373+1873A>G | ENSP00000363076.3:n.4373+1873A>G | |
| ENST00000395430.5:c.4454A>G | ENSP00000378818.1:p.Asn1485Ser | |
| ENST00000395432.6:c.4343A>G | ENSP00000378820.2:p.Asn1448Ser | |
| ENST00000395433.5:c.4394A>G | ENSP00000378821.1:p.Asn1465Ser | |
| ENST00000395438.5:c.4371+4129A>G | ENSP00000378826.2:n.4371+4129A>G | |
| ENST00000395440.5:c.1306-13717A>G | ENSP00000378827.1:n.1306-13717A>G | |
| ENST00000395442.5:c.1099-13717A>G | ENSP00000378829.1:n.1099-13717A>G | |
| ENST00000395445.5:c.4388+4130A>G | ENSP00000378832.2:n.4388+4130A>G | |
| ENST00000395446.5:c.2092-13717A>G | ENSP00000378833.1:n.2092-13717A>G | |
| ENST00000409834.5:c.3206+1873A>G | ENSP00000386693.1:n.3206+1873A>G | |
| ENST00000414367.5:c.*447+4130A>G | ENSP00000412531.1:n.*447+4130A>G | |
| ENST00000414778.5:c.4370+4130A>G | ENSP00000410304.2:n.4370+4130A>G | |
| ENST00000437009.5:c.4256A>G | ENSP00000412628.2:p.Asn1419Ser | |
| ENST00000448885.5:c.*2424A>G | ENSP00000412320.1:n.*2424A>G | |
| ENST00000463095.2:n.1482A>G | ||
| ENST00000495484.5:c.462-5250A>G | ENSP00000480780.1:n.462-5250A>G | |
| ENST00000612394.4:c.4406+4130A>G | ENSP00000482921.1:n.4406+4130A>G | |
| ENST00000613657.4:c.4409+1873A>G | ENSP00000482794.1:n.4409+1873A>G | |
| ENST00000614895.4:c.4385+4130A>G | ENSP00000478512.1:n.4385+4130A>G | |
| ENST00000616114.4:c.4367+4130A>G | ENSP00000483745.1:n.4367+4130A>G | |
| ENST00000617051.4:c.4490A>G | ENSP00000484703.1:p.Asn1497Ser | |
| ENST00000617271.4:c.4373+1873A>G | ENSP00000478076.1:n.4373+1873A>G | |
| ENST00000618301.4:c.593+4130A>G | ENSP00000482780.1:n.593+4130A>G | |
| ENST00000621708.4:c.4388+1873A>G | ENSP00000484454.1:n.4388+1873A>G | |
| ENST00000622048.4:c.4262A>G | ENSP00000482329.1:p.Asn1421Ser | |
| NM_001142763.1:c.4484A>G | NP_001136235.1:p.Asn1495Ser | |
| NM_001142764.1:c.4469A>G | NP_001136236.1:p.Asn1490Ser | |
| NM_001142765.1:c.4256A>G | NP_001136237.1:p.Asn1419Ser | |
| NM_001142766.1:c.4454A>G | NP_001136238.1:p.Asn1485Ser | |
| NM_001142767.1:c.4343A>G | NP_001136239.1:p.Asn1448Ser | |
| NM_001142768.1:c.4403A>G | NP_001136240.1:p.Asn1468Ser | |
| NM_001142769.1:c.4409+1873A>G | NP_001136241.1:n.4409+1873A>G | |
| NM_001142770.1:c.4373+1873A>G | NP_001136242.1:n.4373+1873A>G | |
| NM_001142771.1:c.4388+1873A>G | NP_001136243.1:n.4388+1873A>G | |
| NM_001142772.1:c.4373+1873A>G | NP_001136244.1:n.4373+1873A>G | |
| NM_001142773.1:c.4394A>G | NP_001136245.1:p.Asn1465Ser | |
| NM_033056.3:c.4463A>G | NP_149045.3:p.Asn1488Ser | |
| NM_001142769.2:c.4409+1873A>G | NP_001136241.1:n.4409+1873A>G | |
| NM_001142770.2:c.4373+1873A>G | NP_001136242.1:n.4373+1873A>G | |
| NM_001354404.1:c.4397A>G | NP_001341333.1:p.Asn1466Ser | |
| NM_001354411.1:c.4388+4130A>G | NP_001341340.1:n.4388+4130A>G | |
| NM_001354420.1:c.4367+4130A>G | NP_001341349.1:n.4367+4130A>G | |
| NM_001354429.1:c.4367+4130A>G | NP_001341358.1:n.4367+4130A>G | |
| XM_017016573.2:c.4388+1873A>G | XP_016872062.1:n.4388+1873A>G | |
| XR_001747192.2:n.5476A>G | ||
| XR_001747193.2:n.5467A>G | ||
| NM_001142763.2:c.4484A>G | NP_001136235.1:p.Asn1495Ser | |
| NM_001142764.2:c.4469A>G | NP_001136236.1:p.Asn1490Ser | |
| NM_001142765.2:c.4256A>G | NP_001136237.1:p.Asn1419Ser | |
| NM_001142766.2:c.4454A>G | NP_001136238.1:p.Asn1485Ser | |
| NM_001142768.2:c.4403A>G | NP_001136240.1:p.Asn1468Ser | |
| NM_001142769.3:c.4409+1873A>G | NP_001136241.1:n.4409+1873A>G | |
| NM_001142770.3:c.4373+1873A>G | NP_001136242.1:n.4373+1873A>G | |
| NM_001142771.2:c.4388+1873A>G | NP_001136243.1:n.4388+1873A>G | |
| NM_001142772.2:c.4373+1873A>G | NP_001136244.1:n.4373+1873A>G | |
| NM_001142773.2:c.4394A>G | NP_001136245.1:p.Asn1465Ser | |
| NM_001354411.2:c.4388+4130A>G | NP_001341340.1:n.4388+4130A>G | |
| NM_001354420.2:c.4367+4130A>G | NP_001341349.1:n.4367+4130A>G | |
| NM_001354429.2:c.4367+4130A>G | NP_001341358.1:n.4367+4130A>G | |
| NM_033056.4:c.4463A>G MANE Plus Clinical | NP_149045.3:p.Asn1488Ser | |
| NM_001142767.2:c.4343A>G | NP_001136239.1:p.Asn1448Ser | |
| NM_001354404.2:c.4397A>G | NP_001341333.1:p.Asn1466Ser | |
| NM_001384140.1:c.4368-3033A>G MANE Select | NP_001371069.1:n.4368-3033A>G |