Linked Data
ClinVar Variation Id:
1146509
ClinVar RCV Id:
RCV001485797
dbSNP Id:
rs758630212
gnomAD v3:
10-89014240-T-C
gnomAD v4:
10-89014240-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014240T>C , CM000672.2:g.89014240T>C | GRCh38 |
| NC_000010.10:g.90773997T>C , CM000672.1:g.90773997T>C | GRCh37 |
| NC_000010.9:g.90763977T>C | NCBI36 |
| NG_009089.2:g.28710T>C , LRG_134:g.28710T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1107T>C | ||
| ENST00000355740.8:c.*121T>C | ENSP00000347979.3:n.*121T>C | |
| ENST00000357339.7:c.735T>C | ENSP00000349896.2:p.Asn245= | |
| ENST00000371857.8:n.2343T>C | ||
| ENST00000460510.6:c.81T>C | ENSP00000512812.1:p.Asn27= | |
| ENST00000466081.6:n.2447T>C | ||
| ENST00000477270.6:c.843T>C | ENSP00000512813.1:p.Asn281= | |
| ENST00000479522.6:c.*227T>C | ENSP00000424113.1:n.*227T>C | |
| ENST00000484444.6:c.*239T>C | ENSP00000420975.1:n.*239T>C | |
| ENST00000488877.6:c.689T>C | ENSP00000425159.1:n.689T>C | |
| ENST00000492756.7:c.*227T>C | ENSP00000422453.1:n.*227T>C | |
| ENST00000494799.6:c.81T>C | ENSP00000512834.1:p.Asn27= | |
| ENST00000562983.3:c.81T>C | ENSP00000512845.1:p.Asn27= | |
| ENST00000612663.6:c.*200T>C | ENSP00000477997.3:n.*200T>C | |
| ENST00000640140.2:n.943T>C | ||
| ENST00000640250.2:n.297T>C | ||
| ENST00000640681.2:n.902T>C | ||
| ENST00000696723.1:n.4431T>C | ||
| ENST00000696741.1:n.2436T>C | ||
| ENST00000696742.1:n.2163T>C | ||
| ENST00000696743.1:n.3566T>C | ||
| ENST00000696744.1:n.837T>C | ||
| ENST00000696767.1:n.1132T>C | ||
| ENST00000696768.1:c.*121T>C | ENSP00000512859.1:n.*121T>C | |
| ENST00000696769.1:n.2487T>C | ||
| ENST00000696771.1:c.81T>C | ENSP00000512860.1:p.Asn27= | |
| ENST00000696772.1:n.2401T>C | ||
| ENST00000696773.1:n.2140T>C | ||
| ENST00000696774.1:n.5908T>C | ||
| ENST00000696776.1:c.891T>C | ENSP00000512861.1:p.Asn297= | |
| ENST00000696777.1:n.2206T>C | ||
| ENST00000696778.1:n.1234T>C | ||
| ENST00000696779.1:c.405T>C | ENSP00000512862.1:p.Asn135= | |
| ENST00000696780.1:c.828T>C | ENSP00000512863.1:p.Asn276= | |
| ENST00000696781.1:c.543T>C | ENSP00000512864.1:p.Asn181= | |
| ENST00000696782.1:c.*200T>C | ENSP00000512865.1:n.*200T>C | |
| ENST00000696783.1:n.2666T>C | ||
| ENST00000696992.1:n.1915T>C | ||
| ENST00000696995.1:n.4327T>C | ||
| ENST00000696996.1:n.2240T>C | ||
| ENST00000696997.1:c.*428T>C | ENSP00000513028.1:n.*428T>C | |
| ENST00000696998.1:n.2052T>C | ||
| ENST00000696999.1:c.81T>C | ENSP00000513029.1:p.Asn27= | |
| ENST00000697035.1:c.*131T>C | ENSP00000513059.1:n.*131T>C | |
| ENST00000697036.1:c.*214T>C | ENSP00000513060.1:n.*214T>C | |
| ENST00000697037.1:n.833T>C | ||
| ENST00000697093.1:n.3034T>C | ||
| ENST00000697094.1:n.3381T>C | ||
| ENST00000697095.1:c.*1999T>C | ENSP00000513104.1:n.*1999T>C | |
| ENST00000697096.1:n.1931T>C | ||
| ENST00000697097.1:c.81T>C | ENSP00000513105.1:p.Asn27= | |
| ENST00000562983.2:n.984T>C | ||
| ENST00000690268.1:c.879T>C | ENSP00000509810.1:p.Asn293= | |
| ENST00000355740.7:c.*124T>C | ENSP00000347979.3:n.*124T>C | |
| ENST00000612663.5:c.*200T>C | ENSP00000477997.3:n.*200T>C | |
| ENST00000640140.1:n.970T>C | ||
| ENST00000640250.1:n.297T>C | ||
| ENST00000640681.1:n.919T>C | ||
| ENST00000652046.1:c.798T>C MANE Select | ENSP00000498466.1:p.Asn266= | |
| ENST00000352159.8:c.*115T>C | ENSP00000345601.4:n.*115T>C | |
| ENST00000355279.2:c.773T>C | ENSP00000347426.2:n.773T>C | |
| ENST00000355740.6:c.798T>C | ENSP00000347979.2:p.Asn266= | |
| ENST00000357339.6:c.735T>C | ENSP00000349896.2:p.Asn245= | |
| ENST00000479522.5:c.*227T>C | ENSP00000424113.1:n.*227T>C | |
| ENST00000484444.5:c.*239T>C | ENSP00000420975.1:n.*239T>C | |
| ENST00000488877.5:c.*239T>C | ENSP00000425159.1:n.*239T>C | |
| ENST00000492756.5:c.626T>C | ENSP00000422453.1:n.626T>C | |
| ENST00000494410.5:c.*156T>C | ENSP00000423755.1:n.*156T>C | |
| ENST00000612663.4:c.*145T>C | ENSP00000477997.2:n.*145T>C | |
| NM_000043.4:c.798T>C , LRG_134t1:c.798T>C | NP_000034.1:p.Asn266= | |
| NM_152871.2:c.735T>C | NP_690610.1:p.Asn245= | |
| NM_152872.2:c.*110T>C | NP_690611.1:n.*110T>C | |
| NR_028033.2:n.972T>C | ||
| NR_028034.2:n.834T>C | ||
| NR_028035.2:n.897T>C | ||
| NR_028036.2:n.1035T>C | ||
| XM_006717819.2:c.879T>C | XP_006717882.1:p.Asn293= | |
| XM_011539764.1:c.960T>C | XP_011538066.1:p.Asn320= | |
| XM_011539765.1:c.897T>C | XP_011538067.1:p.Asn299= | |
| XM_011539766.1:c.879T>C | XP_011538068.1:p.Asn293= | |
| XM_011539767.1:c.843T>C | XP_011538069.1:p.Asn281= | |
| XR_945732.1:n.866T>C | ||
| XR_945733.1:n.803T>C | ||
| NM_000043.5:c.798T>C | NP_000034.1:p.Asn266= | |
| NM_001320619.1:c.*121T>C | NP_001307548.1:n.*121T>C | |
| NM_152871.3:c.735T>C | NP_690610.1:p.Asn245= | |
| NM_152872.3:c.*110T>C | NP_690611.1:n.*110T>C | |
| NR_028033.3:n.944T>C | ||
| NR_028034.3:n.806T>C | ||
| NR_028035.3:n.869T>C | ||
| NR_028036.3:n.1007T>C | ||
| NR_135313.1:n.924T>C | ||
| NR_135314.1:n.1107T>C | ||
| NR_135315.1:n.860T>C | ||
| XM_006717819.3:c.879T>C | XP_006717882.1:p.Asn293= | |
| XM_011539764.2:c.960T>C | XP_011538066.1:p.Asn320= | |
| XM_011539765.2:c.897T>C | XP_011538067.1:p.Asn299= | |
| XM_011539766.2:c.879T>C | XP_011538068.1:p.Asn293= | |
| XM_011539767.3:c.843T>C | XP_011538069.1:p.Asn281= | |
| XR_945732.3:n.866T>C | ||
| XR_945733.2:n.803T>C | ||
| NM_000043.6:c.798T>C MANE Select | NP_000034.1:p.Asn266= | |
| NM_001320619.2:c.*121T>C | NP_001307548.1:n.*121T>C | |
| NM_152871.4:c.735T>C | NP_690610.1:p.Asn245= | |
| NM_152872.4:c.*110T>C | NP_690611.1:n.*110T>C | |
| NR_028033.4:n.705T>C | ||
| NR_028034.4:n.567T>C | ||
| NR_028035.4:n.630T>C | ||
| NR_028036.4:n.768T>C | ||
| NR_135313.2:n.685T>C | ||
| NR_135314.2:n.964T>C | ||
| NR_135315.2:n.717T>C |