Linked Data
ClinVar Variation Id:
2955291
ClinVar RCV Id:
RCV003818466
dbSNP Id:
rs1293544858
gnomAD v3:
10-89014405-C-G
gnomAD v4:
10-89014405-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014405C>G , CM000672.2:g.89014405C>G | GRCh38 |
| NC_000010.10:g.90774162C>G , CM000672.1:g.90774162C>G | GRCh37 |
| NC_000010.9:g.90764142C>G | NCBI36 |
| NG_009089.2:g.28875C>G , LRG_134:g.28875C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1272C>G | ||
| ENST00000355740.8:c.*286C>G | ENSP00000347979.3:n.*286C>G | |
| ENST00000357339.7:c.900C>G | ENSP00000349896.2:p.Asp300Glu | |
| ENST00000371857.8:n.2508C>G | ||
| ENST00000460510.6:c.246C>G | ENSP00000512812.1:p.Asp82Glu | |
| ENST00000466081.6:n.2612C>G | ||
| ENST00000477270.6:c.1008C>G | ENSP00000512813.1:p.Asp336Glu | |
| ENST00000479522.6:c.*392C>G | ENSP00000424113.1:n.*392C>G | |
| ENST00000484444.6:c.*404C>G | ENSP00000420975.1:n.*404C>G | |
| ENST00000488877.6:c.854C>G | ENSP00000425159.1:n.854C>G | |
| ENST00000492756.7:c.*392C>G | ENSP00000422453.1:n.*392C>G | |
| ENST00000494799.6:c.246C>G | ENSP00000512834.1:p.Asp82Glu | |
| ENST00000562983.3:c.246C>G | ENSP00000512845.1:p.Asp82Glu | |
| ENST00000612663.6:c.*365C>G | ENSP00000477997.3:n.*365C>G | |
| ENST00000640140.2:n.1108C>G | ||
| ENST00000640250.2:n.462C>G | ||
| ENST00000640681.2:n.1067C>G | ||
| ENST00000696723.1:n.4596C>G | ||
| ENST00000696741.1:n.2601C>G | ||
| ENST00000696742.1:n.2328C>G | ||
| ENST00000696743.1:n.3731C>G | ||
| ENST00000696744.1:n.1002C>G | ||
| ENST00000696767.1:n.1297C>G | ||
| ENST00000696768.1:c.*286C>G | ENSP00000512859.1:n.*286C>G | |
| ENST00000696769.1:n.2652C>G | ||
| ENST00000696771.1:c.246C>G | ENSP00000512860.1:p.Asp82Glu | |
| ENST00000696772.1:n.2566C>G | ||
| ENST00000696773.1:n.2305C>G | ||
| ENST00000696774.1:n.6073C>G | ||
| ENST00000696776.1:c.1056C>G | ENSP00000512861.1:p.Asp352Glu | |
| ENST00000696777.1:n.2371C>G | ||
| ENST00000696778.1:n.1399C>G | ||
| ENST00000696779.1:c.570C>G | ENSP00000512862.1:p.Asp190Glu | |
| ENST00000696780.1:c.993C>G | ENSP00000512863.1:p.Asp331Glu | |
| ENST00000696781.1:c.708C>G | ENSP00000512864.1:p.Asp236Glu | |
| ENST00000696782.1:c.*365C>G | ENSP00000512865.1:n.*365C>G | |
| ENST00000696783.1:n.2831C>G | ||
| ENST00000696992.1:n.2080C>G | ||
| ENST00000696995.1:n.4492C>G | ||
| ENST00000696996.1:n.2405C>G | ||
| ENST00000696997.1:c.*593C>G | ENSP00000513028.1:n.*593C>G | |
| ENST00000696998.1:n.2217C>G | ||
| ENST00000696999.1:c.246C>G | ENSP00000513029.1:p.Asp82Glu | |
| ENST00000697036.1:c.*379C>G | ENSP00000513060.1:n.*379C>G | |
| ENST00000697037.1:n.998C>G | ||
| ENST00000697093.1:n.3199C>G | ||
| ENST00000697094.1:n.3546C>G | ||
| ENST00000697095.1:c.*2164C>G | ENSP00000513104.1:n.*2164C>G | |
| ENST00000697096.1:n.2096C>G | ||
| ENST00000697097.1:c.246C>G | ENSP00000513105.1:p.Asp82Glu | |
| ENST00000562983.2:n.1149C>G | ||
| ENST00000690268.1:c.1044C>G | ENSP00000509810.1:p.Asp348Glu | |
| ENST00000355740.7:c.*289C>G | ENSP00000347979.3:n.*289C>G | |
| ENST00000612663.5:c.*365C>G | ENSP00000477997.3:n.*365C>G | |
| ENST00000640140.1:n.1135C>G | ||
| ENST00000640250.1:n.462C>G | ||
| ENST00000640681.1:n.1084C>G | ||
| ENST00000652046.1:c.963C>G MANE Select | ENSP00000498466.1:p.Asp321Glu | |
| ENST00000352159.8:c.*280C>G | ENSP00000345601.4:n.*280C>G | |
| ENST00000355279.2:c.938C>G | ENSP00000347426.2:n.938C>G | |
| ENST00000355740.6:c.963C>G | ENSP00000347979.2:p.Asp321Glu | |
| ENST00000357339.6:c.900C>G | ENSP00000349896.2:p.Asp300Glu | |
| ENST00000479522.5:c.*392C>G | ENSP00000424113.1:n.*392C>G | |
| ENST00000484444.5:c.*404C>G | ENSP00000420975.1:n.*404C>G | |
| ENST00000488877.5:c.*404C>G | ENSP00000425159.1:n.*404C>G | |
| ENST00000492756.5:c.791C>G | ENSP00000422453.1:n.791C>G | |
| ENST00000494410.5:c.*321C>G | ENSP00000423755.1:n.*321C>G | |
| ENST00000612663.4:c.*310C>G | ENSP00000477997.2:n.*310C>G | |
| NM_000043.4:c.963C>G , LRG_134t1:c.963C>G | NP_000034.1:p.Asp321Glu | |
| NM_152871.2:c.900C>G | NP_690610.1:p.Asp300Glu | |
| NM_152872.2:c.*275C>G | NP_690611.1:n.*275C>G | |
| NR_028033.2:n.1137C>G | ||
| NR_028034.2:n.999C>G | ||
| NR_028035.2:n.1062C>G | ||
| NR_028036.2:n.1200C>G | ||
| XM_006717819.2:c.1044C>G | XP_006717882.1:p.Asp348Glu | |
| XM_011539764.1:c.1125C>G | XP_011538066.1:p.Asp375Glu | |
| XM_011539765.1:c.1062C>G | XP_011538067.1:p.Asp354Glu | |
| XM_011539766.1:c.1044C>G | XP_011538068.1:p.Asp348Glu | |
| XM_011539767.1:c.1008C>G | XP_011538069.1:p.Asp336Glu | |
| XR_945733.1:n.968C>G | ||
| NM_000043.5:c.963C>G | NP_000034.1:p.Asp321Glu | |
| NM_001320619.1:c.*286C>G | NP_001307548.1:n.*286C>G | |
| NM_152871.3:c.900C>G | NP_690610.1:p.Asp300Glu | |
| NM_152872.3:c.*275C>G | NP_690611.1:n.*275C>G | |
| NR_028033.3:n.1109C>G | ||
| NR_028034.3:n.971C>G | ||
| NR_028035.3:n.1034C>G | ||
| NR_028036.3:n.1172C>G | ||
| NR_135313.1:n.1089C>G | ||
| NR_135314.1:n.1272C>G | ||
| NR_135315.1:n.1025C>G | ||
| XM_006717819.3:c.1044C>G | XP_006717882.1:p.Asp348Glu | |
| XM_011539764.2:c.1125C>G | XP_011538066.1:p.Asp375Glu | |
| XM_011539765.2:c.1062C>G | XP_011538067.1:p.Asp354Glu | |
| XM_011539766.2:c.1044C>G | XP_011538068.1:p.Asp348Glu | |
| XM_011539767.3:c.1008C>G | XP_011538069.1:p.Asp336Glu | |
| XR_945732.3:n.1031C>G | ||
| XR_945733.2:n.968C>G | ||
| NM_000043.6:c.963C>G MANE Select | NP_000034.1:p.Asp321Glu | |
| NM_001320619.2:c.*286C>G | NP_001307548.1:n.*286C>G | |
| NM_152871.4:c.900C>G | NP_690610.1:p.Asp300Glu | |
| NM_152872.4:c.*275C>G | NP_690611.1:n.*275C>G | |
| NR_028033.4:n.870C>G | ||
| NR_028034.4:n.732C>G | ||
| NR_028035.4:n.795C>G | ||
| NR_028036.4:n.933C>G | ||
| NR_135313.2:n.850C>G | ||
| NR_135314.2:n.1129C>G | ||
| NR_135315.2:n.882C>G |