Linked Data
ClinVar Variation Id:
943246
ClinVar RCV Id:
RCV001213394
dbSNP Id:
rs1449711911
gnomAD v2:
10-90774100-G-A
gnomAD v4:
10-89014343-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014343G>A , CM000672.2:g.89014343G>A | GRCh38 |
| NC_000010.10:g.90774100G>A , CM000672.1:g.90774100G>A | GRCh37 |
| NC_000010.9:g.90764080G>A | NCBI36 |
| NG_009089.2:g.28813G>A , LRG_134:g.28813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1210G>A | ||
| ENST00000355740.8:c.*224G>A | ENSP00000347979.3:n.*224G>A | |
| ENST00000357339.7:c.838G>A | ENSP00000349896.2:p.Ala280Thr | |
| ENST00000371857.8:n.2446G>A | ||
| ENST00000460510.6:c.184G>A | ENSP00000512812.1:p.Ala62Thr | |
| ENST00000466081.6:n.2550G>A | ||
| ENST00000477270.6:c.946G>A | ENSP00000512813.1:p.Ala316Thr | |
| ENST00000479522.6:c.*330G>A | ENSP00000424113.1:n.*330G>A | |
| ENST00000484444.6:c.*342G>A | ENSP00000420975.1:n.*342G>A | |
| ENST00000488877.6:c.792G>A | ENSP00000425159.1:n.792G>A | |
| ENST00000492756.7:c.*330G>A | ENSP00000422453.1:n.*330G>A | |
| ENST00000494799.6:c.184G>A | ENSP00000512834.1:p.Ala62Thr | |
| ENST00000562983.3:c.184G>A | ENSP00000512845.1:p.Ala62Thr | |
| ENST00000612663.6:c.*303G>A | ENSP00000477997.3:n.*303G>A | |
| ENST00000640140.2:n.1046G>A | ||
| ENST00000640250.2:n.400G>A | ||
| ENST00000640681.2:n.1005G>A | ||
| ENST00000696723.1:n.4534G>A | ||
| ENST00000696741.1:n.2539G>A | ||
| ENST00000696742.1:n.2266G>A | ||
| ENST00000696743.1:n.3669G>A | ||
| ENST00000696744.1:n.940G>A | ||
| ENST00000696767.1:n.1235G>A | ||
| ENST00000696768.1:c.*224G>A | ENSP00000512859.1:n.*224G>A | |
| ENST00000696769.1:n.2590G>A | ||
| ENST00000696771.1:c.184G>A | ENSP00000512860.1:p.Ala62Thr | |
| ENST00000696772.1:n.2504G>A | ||
| ENST00000696773.1:n.2243G>A | ||
| ENST00000696774.1:n.6011G>A | ||
| ENST00000696776.1:c.994G>A | ENSP00000512861.1:p.Ala332Thr | |
| ENST00000696777.1:n.2309G>A | ||
| ENST00000696778.1:n.1337G>A | ||
| ENST00000696779.1:c.508G>A | ENSP00000512862.1:p.Ala170Thr | |
| ENST00000696780.1:c.931G>A | ENSP00000512863.1:p.Ala311Thr | |
| ENST00000696781.1:c.646G>A | ENSP00000512864.1:p.Ala216Thr | |
| ENST00000696782.1:c.*303G>A | ENSP00000512865.1:n.*303G>A | |
| ENST00000696783.1:n.2769G>A | ||
| ENST00000696992.1:n.2018G>A | ||
| ENST00000696995.1:n.4430G>A | ||
| ENST00000696996.1:n.2343G>A | ||
| ENST00000696997.1:c.*531G>A | ENSP00000513028.1:n.*531G>A | |
| ENST00000696998.1:n.2155G>A | ||
| ENST00000696999.1:c.184G>A | ENSP00000513029.1:p.Ala62Thr | |
| ENST00000697036.1:c.*317G>A | ENSP00000513060.1:n.*317G>A | |
| ENST00000697037.1:n.936G>A | ||
| ENST00000697093.1:n.3137G>A | ||
| ENST00000697094.1:n.3484G>A | ||
| ENST00000697095.1:c.*2102G>A | ENSP00000513104.1:n.*2102G>A | |
| ENST00000697096.1:n.2034G>A | ||
| ENST00000697097.1:c.184G>A | ENSP00000513105.1:p.Ala62Thr | |
| ENST00000562983.2:n.1087G>A | ||
| ENST00000690268.1:c.982G>A | ENSP00000509810.1:p.Ala328Thr | |
| ENST00000355740.7:c.*227G>A | ENSP00000347979.3:n.*227G>A | |
| ENST00000612663.5:c.*303G>A | ENSP00000477997.3:n.*303G>A | |
| ENST00000640140.1:n.1073G>A | ||
| ENST00000640250.1:n.400G>A | ||
| ENST00000640681.1:n.1022G>A | ||
| ENST00000652046.1:c.901G>A MANE Select | ENSP00000498466.1:p.Ala301Thr | |
| ENST00000352159.8:c.*218G>A | ENSP00000345601.4:n.*218G>A | |
| ENST00000355279.2:c.876G>A | ENSP00000347426.2:n.876G>A | |
| ENST00000355740.6:c.901G>A | ENSP00000347979.2:p.Ala301Thr | |
| ENST00000357339.6:c.838G>A | ENSP00000349896.2:p.Ala280Thr | |
| ENST00000479522.5:c.*330G>A | ENSP00000424113.1:n.*330G>A | |
| ENST00000484444.5:c.*342G>A | ENSP00000420975.1:n.*342G>A | |
| ENST00000488877.5:c.*342G>A | ENSP00000425159.1:n.*342G>A | |
| ENST00000492756.5:c.729G>A | ENSP00000422453.1:n.729G>A | |
| ENST00000494410.5:c.*259G>A | ENSP00000423755.1:n.*259G>A | |
| ENST00000612663.4:c.*248G>A | ENSP00000477997.2:n.*248G>A | |
| NM_000043.4:c.901G>A , LRG_134t1:c.901G>A | NP_000034.1:p.Ala301Thr | |
| NM_152871.2:c.838G>A | NP_690610.1:p.Ala280Thr | |
| NM_152872.2:c.*213G>A | NP_690611.1:n.*213G>A | |
| NR_028033.2:n.1075G>A | ||
| NR_028034.2:n.937G>A | ||
| NR_028035.2:n.1000G>A | ||
| NR_028036.2:n.1138G>A | ||
| XM_006717819.2:c.982G>A | XP_006717882.1:p.Ala328Thr | |
| XM_011539764.1:c.1063G>A | XP_011538066.1:p.Ala355Thr | |
| XM_011539765.1:c.1000G>A | XP_011538067.1:p.Ala334Thr | |
| XM_011539766.1:c.982G>A | XP_011538068.1:p.Ala328Thr | |
| XM_011539767.1:c.946G>A | XP_011538069.1:p.Ala316Thr | |
| XR_945732.1:n.969G>A | ||
| XR_945733.1:n.906G>A | ||
| NM_000043.5:c.901G>A | NP_000034.1:p.Ala301Thr | |
| NM_001320619.1:c.*224G>A | NP_001307548.1:n.*224G>A | |
| NM_152871.3:c.838G>A | NP_690610.1:p.Ala280Thr | |
| NM_152872.3:c.*213G>A | NP_690611.1:n.*213G>A | |
| NR_028033.3:n.1047G>A | ||
| NR_028034.3:n.909G>A | ||
| NR_028035.3:n.972G>A | ||
| NR_028036.3:n.1110G>A | ||
| NR_135313.1:n.1027G>A | ||
| NR_135314.1:n.1210G>A | ||
| NR_135315.1:n.963G>A | ||
| XM_006717819.3:c.982G>A | XP_006717882.1:p.Ala328Thr | |
| XM_011539764.2:c.1063G>A | XP_011538066.1:p.Ala355Thr | |
| XM_011539765.2:c.1000G>A | XP_011538067.1:p.Ala334Thr | |
| XM_011539766.2:c.982G>A | XP_011538068.1:p.Ala328Thr | |
| XM_011539767.3:c.946G>A | XP_011538069.1:p.Ala316Thr | |
| XR_945732.3:n.969G>A | ||
| XR_945733.2:n.906G>A | ||
| NM_000043.6:c.901G>A MANE Select | NP_000034.1:p.Ala301Thr | |
| NM_001320619.2:c.*224G>A | NP_001307548.1:n.*224G>A | |
| NM_152871.4:c.838G>A | NP_690610.1:p.Ala280Thr | |
| NM_152872.4:c.*213G>A | NP_690611.1:n.*213G>A | |
| NR_028033.4:n.808G>A | ||
| NR_028034.4:n.670G>A | ||
| NR_028035.4:n.733G>A | ||
| NR_028036.4:n.871G>A | ||
| NR_135313.2:n.788G>A | ||
| NR_135314.2:n.1067G>A | ||
| NR_135315.2:n.820G>A |