Linked Data
ClinVar Variation Id:
1701803
ClinVar RCV Id:
RCV002275701
dbSNP Id:
rs1223476137
COSMIC:
COSM5106224
MutSpliceDB:
CA362580253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.2948700C>A , CM000668.2:g.2948700C>A | GRCh38 |
| NC_000006.11:g.2948934C>A , CM000668.1:g.2948934C>A | GRCh37 |
| NC_000006.10:g.2893933C>A | NCBI36 |
| NG_027692.1:g.28466G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380520.6:c.730-1G>T | ENSP00000369891.1:n.730-1G>T | |
| ENST00000380539.7:c.730-1G>T MANE Select | ENSP00000369912.2:n.730-1G>T | |
| ENST00000612421.3:c.787-1G>T | ENSP00000484343.1:n.787-1G>T | |
| ENST00000616722.4:c.742-1G>T | ENSP00000481398.1:n.742-1G>T | |
| ENST00000642543.1:c.598-1G>T | ENSP00000494161.1:n.598-1G>T | |
| ENST00000643098.1:c.730-1G>T | ENSP00000493936.1:n.730-1G>T | |
| ENST00000643314.1:n.2725-1G>T | ||
| ENST00000644178.1:c.730-1G>T | ENSP00000496073.1:n.730-1G>T | |
| ENST00000644388.1:c.730-1G>T | ENSP00000494650.1:n.730-1G>T | |
| ENST00000644693.1:c.*603-1G>T | ENSP00000495361.1:n.*603-1G>T | |
| ENST00000644697.1:n.1591-1G>T | ||
| ENST00000645580.1:c.742-1G>T | ENSP00000495362.1:n.742-1G>T | |
| ENST00000646722.1:n.1649-1G>T | ||
| ENST00000647157.1:n.3064-1G>T | ||
| ENST00000649845.1:c.*844-1G>T | ENSP00000497149.1:n.*844-1G>T | |
| ENST00000335686.9:c.730-1G>T | ENSP00000338358.5:n.730-1G>T | |
| ENST00000380520.5:c.730-1G>T | ENSP00000369891.1:n.730-1G>T | |
| ENST00000380524.5:c.730-1G>T | ENSP00000369896.1:n.730-1G>T | |
| ENST00000380529.5:c.730-1G>T | ENSP00000369901.1:n.730-1G>T | |
| ENST00000380539.5:c.730-1G>T | ENSP00000369912.1:n.730-1G>T | |
| ENST00000380546.7:c.730-1G>T | ENSP00000369919.3:n.730-1G>T | |
| ENST00000612421.2:c.787-1G>T | ENSP00000484343.1:n.787-1G>T | |
| ENST00000616722.3:c.742-1G>T | ENSP00000481398.1:n.742-1G>T | |
| NM_001195291.2:c.742-1G>T | NP_001182220.2:n.742-1G>T | |
| NM_001271822.1:c.772-1G>T | NP_001258751.1:n.772-1G>T | |
| NM_001271823.1:c.787-1G>T | NP_001258752.1:n.787-1G>T | |
| NM_001271824.1:c.730-1G>T | NP_001258753.1:n.730-1G>T | |
| NM_001271825.1:c.730-1G>T | NP_001258754.1:n.730-1G>T | |
| NM_001297699.1:c.730-1G>T | NP_001284628.1:n.730-1G>T | |
| NM_001297700.1:c.730-1G>T | NP_001284629.1:n.730-1G>T | |
| NM_004568.5:c.730-1G>T | NP_004559.4:n.730-1G>T | |
| XM_011514672.1:c.964-1G>T | XP_011512974.1:n.964-1G>T | |
| XM_011514673.1:c.730-1G>T | XP_011512975.1:n.730-1G>T | |
| XM_011514674.1:c.730-1G>T | XP_011512976.1:n.730-1G>T | |
| XM_011514675.1:c.598-1G>T | XP_011512977.1:n.598-1G>T | |
| XM_011514676.1:c.598-1G>T | XP_011512978.1:n.598-1G>T | |
| XM_011514674.2:c.730-1G>T | XP_011512976.1:n.730-1G>T | |
| XM_011514676.2:c.598-1G>T | XP_011512978.1:n.598-1G>T | |
| XM_017010940.1:c.742-1G>T | XP_016866429.1:n.742-1G>T | |
| XM_017010941.1:c.598-1G>T | XP_016866430.1:n.598-1G>T | |
| XM_024446462.1:c.742-1G>T | XP_024302230.1:n.742-1G>T | |
| XM_024446463.1:c.742-1G>T | XP_024302231.1:n.742-1G>T | |
| XM_024446464.1:c.730-1G>T | XP_024302232.1:n.730-1G>T | |
| XM_024446465.1:c.598-1G>T | XP_024302233.1:n.598-1G>T | |
| NM_001195291.3:c.742-1G>T | NP_001182220.2:n.742-1G>T | |
| NM_001271822.2:c.772-1G>T | NP_001258751.1:n.772-1G>T | |
| NM_001271823.2:c.787-1G>T | NP_001258752.1:n.787-1G>T | |
| NM_001271824.2:c.730-1G>T | NP_001258753.1:n.730-1G>T | |
| NM_001271825.2:c.730-1G>T | NP_001258754.1:n.730-1G>T | |
| NM_001297699.2:c.730-1G>T | NP_001284628.1:n.730-1G>T | |
| NM_001297700.2:c.730-1G>T | NP_001284629.1:n.730-1G>T | |
| NM_001374515.1:c.742-1G>T | NP_001361444.1:n.742-1G>T | |
| NM_001374516.1:c.730-1G>T | NP_001361445.1:n.730-1G>T | |
| NM_001374517.1:c.598-1G>T | NP_001361446.1:n.598-1G>T | |
| NM_004568.6:c.730-1G>T MANE Select | NP_004559.4:n.730-1G>T | |
| NR_164657.1:n.779-1G>T |