Linked Data
ClinVar Variation Id:
16510
ClinVar RCV Id:
RCV000017974
dbSNP Id:
rs121913082
PubMed:
PMID:10620127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014205A>G , CM000672.2:g.89014205A>G | GRCh38 |
| NC_000010.10:g.90773962A>G , CM000672.1:g.90773962A>G | GRCh37 |
| NC_000010.9:g.90763942A>G | NCBI36 |
| NG_009089.2:g.28675A>G , LRG_134:g.28675A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.1072A>G | ||
| ENST00000355740.8:c.*86A>G | ENSP00000347979.3:n.*86A>G | |
| ENST00000357339.7:c.700A>G | ENSP00000349896.2:p.Asn234Asp | |
| ENST00000371857.8:n.2308A>G | ||
| ENST00000460510.6:c.46A>G | ENSP00000512812.1:p.Asn16Asp | |
| ENST00000466081.6:n.2412A>G | ||
| ENST00000477270.6:c.808A>G | ENSP00000512813.1:p.Asn270Asp | |
| ENST00000479522.6:c.*192A>G | ENSP00000424113.1:n.*192A>G | |
| ENST00000484444.6:c.*204A>G | ENSP00000420975.1:n.*204A>G | |
| ENST00000488877.6:c.654A>G | ENSP00000425159.1:n.654A>G | |
| ENST00000492756.7:c.*192A>G | ENSP00000422453.1:n.*192A>G | |
| ENST00000494799.6:c.46A>G | ENSP00000512834.1:p.Asn16Asp | |
| ENST00000562983.3:c.46A>G | ENSP00000512845.1:p.Asn16Asp | |
| ENST00000612663.6:c.*165A>G | ENSP00000477997.3:n.*165A>G | |
| ENST00000640140.2:n.908A>G | ||
| ENST00000640250.2:n.262A>G | ||
| ENST00000640681.2:n.867A>G | ||
| ENST00000696723.1:n.4396A>G | ||
| ENST00000696741.1:n.2401A>G | ||
| ENST00000696742.1:n.2128A>G | ||
| ENST00000696743.1:n.3531A>G | ||
| ENST00000696744.1:n.802A>G | ||
| ENST00000696767.1:n.1097A>G | ||
| ENST00000696768.1:c.*86A>G | ENSP00000512859.1:n.*86A>G | |
| ENST00000696769.1:n.2452A>G | ||
| ENST00000696771.1:c.46A>G | ENSP00000512860.1:p.Asn16Asp | |
| ENST00000696772.1:n.2366A>G | ||
| ENST00000696773.1:n.2105A>G | ||
| ENST00000696774.1:n.5873A>G | ||
| ENST00000696776.1:c.856A>G | ENSP00000512861.1:p.Asn286Asp | |
| ENST00000696777.1:n.2171A>G | ||
| ENST00000696778.1:n.1199A>G | ||
| ENST00000696779.1:c.370A>G | ENSP00000512862.1:p.Asn124Asp | |
| ENST00000696780.1:c.793A>G | ENSP00000512863.1:p.Asn265Asp | |
| ENST00000696781.1:c.508A>G | ENSP00000512864.1:p.Asn170Asp | |
| ENST00000696782.1:c.*165A>G | ENSP00000512865.1:n.*165A>G | |
| ENST00000696783.1:n.2631A>G | ||
| ENST00000696992.1:n.1880A>G | ||
| ENST00000696995.1:n.4292A>G | ||
| ENST00000696996.1:n.2205A>G | ||
| ENST00000696997.1:c.*393A>G | ENSP00000513028.1:n.*393A>G | |
| ENST00000696998.1:n.2017A>G | ||
| ENST00000696999.1:c.46A>G | ENSP00000513029.1:p.Asn16Asp | |
| ENST00000697035.1:c.*96A>G | ENSP00000513059.1:n.*96A>G | |
| ENST00000697036.1:c.*179A>G | ENSP00000513060.1:n.*179A>G | |
| ENST00000697037.1:n.798A>G | ||
| ENST00000697093.1:n.2999A>G | ||
| ENST00000697094.1:n.3346A>G | ||
| ENST00000697095.1:c.*1964A>G | ENSP00000513104.1:n.*1964A>G | |
| ENST00000697096.1:n.1896A>G | ||
| ENST00000697097.1:c.46A>G | ENSP00000513105.1:p.Asn16Asp | |
| ENST00000562983.2:n.949A>G | ||
| ENST00000690268.1:c.844A>G | ENSP00000509810.1:p.Asn282Asp | |
| ENST00000355740.7:c.*89A>G | ENSP00000347979.3:n.*89A>G | |
| ENST00000612663.5:c.*165A>G | ENSP00000477997.3:n.*165A>G | |
| ENST00000640140.1:n.935A>G | ||
| ENST00000640250.1:n.262A>G | ||
| ENST00000640681.1:n.884A>G | ||
| ENST00000652046.1:c.763A>G MANE Select | ENSP00000498466.1:p.Asn255Asp | |
| ENST00000352159.8:c.*80A>G | ENSP00000345601.4:n.*80A>G | |
| ENST00000355279.2:c.738A>G | ENSP00000347426.2:n.738A>G | |
| ENST00000355740.6:c.763A>G | ENSP00000347979.2:p.Asn255Asp | |
| ENST00000357339.6:c.700A>G | ENSP00000349896.2:p.Asn234Asp | |
| ENST00000479522.5:c.*192A>G | ENSP00000424113.1:n.*192A>G | |
| ENST00000484444.5:c.*204A>G | ENSP00000420975.1:n.*204A>G | |
| ENST00000488877.5:c.*204A>G | ENSP00000425159.1:n.*204A>G | |
| ENST00000492756.5:c.591A>G | ENSP00000422453.1:n.591A>G | |
| ENST00000494410.5:c.*121A>G | ENSP00000423755.1:n.*121A>G | |
| ENST00000494799.5:n.670A>G | ||
| ENST00000612663.4:c.*110A>G | ENSP00000477997.2:n.*110A>G | |
| ENST00000615406.4:c.761A>G | ENSP00000484575.1:p.Gln254Arg | |
| NM_000043.4:c.763A>G , LRG_134t1:c.763A>G | NP_000034.1:p.Asn255Asp | |
| NM_152871.2:c.700A>G | NP_690610.1:p.Asn234Asp | |
| NM_152872.2:c.*75A>G | NP_690611.1:n.*75A>G | |
| NR_028033.2:n.937A>G | ||
| NR_028034.2:n.799A>G | ||
| NR_028035.2:n.862A>G | ||
| NR_028036.2:n.1000A>G | ||
| XM_006717819.2:c.844A>G | XP_006717882.1:p.Asn282Asp | |
| XM_011539764.1:c.925A>G | XP_011538066.1:p.Asn309Asp | |
| XM_011539765.1:c.862A>G | XP_011538067.1:p.Asn288Asp | |
| XM_011539766.1:c.844A>G | XP_011538068.1:p.Asn282Asp | |
| XM_011539767.1:c.808A>G | XP_011538069.1:p.Asn270Asp | |
| XR_945732.1:n.831A>G | ||
| XR_945733.1:n.768A>G | ||
| NM_000043.5:c.763A>G | NP_000034.1:p.Asn255Asp | |
| NM_001320619.1:c.*86A>G | NP_001307548.1:n.*86A>G | |
| NM_152871.3:c.700A>G | NP_690610.1:p.Asn234Asp | |
| NM_152872.3:c.*75A>G | NP_690611.1:n.*75A>G | |
| NR_028033.3:n.909A>G | ||
| NR_028034.3:n.771A>G | ||
| NR_028035.3:n.834A>G | ||
| NR_028036.3:n.972A>G | ||
| NR_135313.1:n.889A>G | ||
| NR_135314.1:n.1072A>G | ||
| NR_135315.1:n.825A>G | ||
| XM_006717819.3:c.844A>G | XP_006717882.1:p.Asn282Asp | |
| XM_011539764.2:c.925A>G | XP_011538066.1:p.Asn309Asp | |
| XM_011539765.2:c.862A>G | XP_011538067.1:p.Asn288Asp | |
| XM_011539766.2:c.844A>G | XP_011538068.1:p.Asn282Asp | |
| XM_011539767.3:c.808A>G | XP_011538069.1:p.Asn270Asp | |
| XR_945732.3:n.831A>G | ||
| XR_945733.2:n.768A>G | ||
| NM_000043.6:c.763A>G MANE Select | NP_000034.1:p.Asn255Asp | |
| NM_001320619.2:c.*86A>G | NP_001307548.1:n.*86A>G | |
| NM_152871.4:c.700A>G | NP_690610.1:p.Asn234Asp | |
| NM_152872.4:c.*75A>G | NP_690611.1:n.*75A>G | |
| NR_028033.4:n.670A>G | ||
| NR_028034.4:n.532A>G | ||
| NR_028035.4:n.595A>G | ||
| NR_028036.4:n.733A>G | ||
| NR_135313.2:n.650A>G | ||
| NR_135314.2:n.929A>G | ||
| NR_135315.2:n.682A>G |