Linked Data
ClinVar Variation Id:
1980680
ClinVar RCV Id:
RCV002761525
dbSNP Id:
rs768851846
ExAC:
10:90774177 C / T
gnomAD v2:
10-90774177-C-T
gnomAD v3:
10-89014420-C-T
gnomAD v4:
10-89014420-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014420C>T , CM000672.2:g.89014420C>T | GRCh38 |
| NC_000010.10:g.90774177C>T , CM000672.1:g.90774177C>T | GRCh37 |
| NC_000010.9:g.90764157C>T | NCBI36 |
| NG_009089.2:g.28890C>T , LRG_134:g.28890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1287C>T | ||
| ENST00000355740.8:c.*301C>T | ENSP00000347979.3:n.*301C>T | |
| ENST00000357339.7:c.915C>T | ENSP00000349896.2:p.Asn305= | |
| ENST00000371857.8:n.2523C>T | ||
| ENST00000460510.6:c.261C>T | ENSP00000512812.1:p.Asn87= | |
| ENST00000466081.6:n.2627C>T | ||
| ENST00000477270.6:c.1023C>T | ENSP00000512813.1:p.Asn341= | |
| ENST00000479522.6:c.*407C>T | ENSP00000424113.1:n.*407C>T | |
| ENST00000484444.6:c.*419C>T | ENSP00000420975.1:n.*419C>T | |
| ENST00000488877.6:c.869C>T | ENSP00000425159.1:n.869C>T | |
| ENST00000492756.7:c.*407C>T | ENSP00000422453.1:n.*407C>T | |
| ENST00000494799.6:c.261C>T | ENSP00000512834.1:p.Asn87= | |
| ENST00000562983.3:c.261C>T | ENSP00000512845.1:p.Asn87= | |
| ENST00000612663.6:c.*380C>T | ENSP00000477997.3:n.*380C>T | |
| ENST00000640140.2:n.1123C>T | ||
| ENST00000640250.2:n.477C>T | ||
| ENST00000640681.2:n.1082C>T | ||
| ENST00000696723.1:n.4611C>T | ||
| ENST00000696741.1:n.2616C>T | ||
| ENST00000696742.1:n.2343C>T | ||
| ENST00000696743.1:n.3746C>T | ||
| ENST00000696744.1:n.1017C>T | ||
| ENST00000696767.1:n.1312C>T | ||
| ENST00000696768.1:c.*301C>T | ENSP00000512859.1:n.*301C>T | |
| ENST00000696769.1:n.2667C>T | ||
| ENST00000696771.1:c.261C>T | ENSP00000512860.1:p.Asn87= | |
| ENST00000696772.1:n.2581C>T | ||
| ENST00000696773.1:n.2320C>T | ||
| ENST00000696774.1:n.6088C>T | ||
| ENST00000696776.1:c.1071C>T | ENSP00000512861.1:p.Asn357= | |
| ENST00000696777.1:n.2386C>T | ||
| ENST00000696778.1:n.1414C>T | ||
| ENST00000696779.1:c.585C>T | ENSP00000512862.1:p.Asn195= | |
| ENST00000696780.1:c.1008C>T | ENSP00000512863.1:p.Asn336= | |
| ENST00000696781.1:c.723C>T | ENSP00000512864.1:p.Asn241= | |
| ENST00000696782.1:c.*380C>T | ENSP00000512865.1:n.*380C>T | |
| ENST00000696783.1:n.2846C>T | ||
| ENST00000696992.1:n.2095C>T | ||
| ENST00000696995.1:n.4507C>T | ||
| ENST00000696996.1:n.2420C>T | ||
| ENST00000696997.1:c.*608C>T | ENSP00000513028.1:n.*608C>T | |
| ENST00000696998.1:n.2232C>T | ||
| ENST00000696999.1:c.261C>T | ENSP00000513029.1:p.Asn87= | |
| ENST00000697036.1:c.*394C>T | ENSP00000513060.1:n.*394C>T | |
| ENST00000697037.1:n.1013C>T | ||
| ENST00000697093.1:n.3214C>T | ||
| ENST00000697094.1:n.3561C>T | ||
| ENST00000697095.1:c.*2179C>T | ENSP00000513104.1:n.*2179C>T | |
| ENST00000697096.1:n.2111C>T | ||
| ENST00000697097.1:c.261C>T | ENSP00000513105.1:p.Asn87= | |
| ENST00000562983.2:n.1164C>T | ||
| ENST00000690268.1:c.1059C>T | ENSP00000509810.1:p.Asn353= | |
| ENST00000355740.7:c.*304C>T | ENSP00000347979.3:n.*304C>T | |
| ENST00000612663.5:c.*380C>T | ENSP00000477997.3:n.*380C>T | |
| ENST00000640140.1:n.1150C>T | ||
| ENST00000640250.1:n.477C>T | ||
| ENST00000640681.1:n.1099C>T | ||
| ENST00000652046.1:c.978C>T MANE Select | ENSP00000498466.1:p.Asn326= | |
| ENST00000352159.8:c.*295C>T | ENSP00000345601.4:n.*295C>T | |
| ENST00000355279.2:c.953C>T | ENSP00000347426.2:n.953C>T | |
| ENST00000355740.6:c.978C>T | ENSP00000347979.2:p.Asn326= | |
| ENST00000357339.6:c.915C>T | ENSP00000349896.2:p.Asn305= | |
| ENST00000479522.5:c.*407C>T | ENSP00000424113.1:n.*407C>T | |
| ENST00000484444.5:c.*419C>T | ENSP00000420975.1:n.*419C>T | |
| ENST00000488877.5:c.*419C>T | ENSP00000425159.1:n.*419C>T | |
| ENST00000492756.5:c.806C>T | ENSP00000422453.1:n.806C>T | |
| ENST00000494410.5:c.*336C>T | ENSP00000423755.1:n.*336C>T | |
| ENST00000612663.4:c.*325C>T | ENSP00000477997.2:n.*325C>T | |
| NM_000043.4:c.978C>T , LRG_134t1:c.978C>T | NP_000034.1:p.Asn326= | |
| NM_152871.2:c.915C>T | NP_690610.1:p.Asn305= | |
| NM_152872.2:c.*290C>T | NP_690611.1:n.*290C>T | |
| NR_028033.2:n.1152C>T | ||
| NR_028034.2:n.1014C>T | ||
| NR_028035.2:n.1077C>T | ||
| NR_028036.2:n.1215C>T | ||
| XM_006717819.2:c.1059C>T | XP_006717882.1:p.Asn353= | |
| XM_011539764.1:c.1140C>T | XP_011538066.1:p.Asn380= | |
| XM_011539765.1:c.1077C>T | XP_011538067.1:p.Asn359= | |
| XM_011539766.1:c.1059C>T | XP_011538068.1:p.Asn353= | |
| XM_011539767.1:c.1023C>T | XP_011538069.1:p.Asn341= | |
| XR_945733.1:n.983C>T | ||
| NM_000043.5:c.978C>T | NP_000034.1:p.Asn326= | |
| NM_001320619.1:c.*301C>T | NP_001307548.1:n.*301C>T | |
| NM_152871.3:c.915C>T | NP_690610.1:p.Asn305= | |
| NM_152872.3:c.*290C>T | NP_690611.1:n.*290C>T | |
| NR_028033.3:n.1124C>T | ||
| NR_028034.3:n.986C>T | ||
| NR_028035.3:n.1049C>T | ||
| NR_028036.3:n.1187C>T | ||
| NR_135313.1:n.1104C>T | ||
| NR_135314.1:n.1287C>T | ||
| NR_135315.1:n.1040C>T | ||
| XM_006717819.3:c.1059C>T | XP_006717882.1:p.Asn353= | |
| XM_011539764.2:c.1140C>T | XP_011538066.1:p.Asn380= | |
| XM_011539765.2:c.1077C>T | XP_011538067.1:p.Asn359= | |
| XM_011539766.2:c.1059C>T | XP_011538068.1:p.Asn353= | |
| XM_011539767.3:c.1023C>T | XP_011538069.1:p.Asn341= | |
| XR_945732.3:n.1046C>T | ||
| XR_945733.2:n.983C>T | ||
| NM_000043.6:c.978C>T MANE Select | NP_000034.1:p.Asn326= | |
| NM_001320619.2:c.*301C>T | NP_001307548.1:n.*301C>T | |
| NM_152871.4:c.915C>T | NP_690610.1:p.Asn305= | |
| NM_152872.4:c.*290C>T | NP_690611.1:n.*290C>T | |
| NR_028033.4:n.885C>T | ||
| NR_028034.4:n.747C>T | ||
| NR_028035.4:n.810C>T | ||
| NR_028036.4:n.948C>T | ||
| NR_135313.2:n.865C>T | ||
| NR_135314.2:n.1144C>T | ||
| NR_135315.2:n.897C>T |