Linked Data
ClinVar Variation Id:
305137
dbSNP Id:
rs75281081
gnomAD v2:
11-61731880-C-T
gnomAD v3:
11-61964408-C-T
gnomAD v4:
11-61964408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964408C>T , CM000673.2:g.61964408C>T | GRCh38 |
| NC_000011.9:g.61731880C>T , CM000673.1:g.61731880C>T | GRCh37 |
| NC_000011.8:g.61488456C>T | NCBI36 |
| NG_008346.1:g.8253G>A | |
| NG_009033.1:g.19525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273550.12:c.*319G>A (FTH1) MANE Select | ENSP00000273550.7:n.*319G>A | |
| ENST00000378043.9:c.*286C>T (BEST1) MANE Select | ENSP00000367282.4:n.*286C>T | |
| ENST00000273550.11:c.*319G>A (FTH1) | ENSP00000273550.7:n.*319G>A | |
| ENST00000378043.8:c.*286C>T (BEST1) | ENSP00000367282.4:n.*286C>T | |
| ENST00000449131.6:c.*1259C>T (BEST1) | ENSP00000399709.2:n.*1259C>T | |
| ENST00000524926.5:c.*939C>T (BEST1) | ENSP00000432681.1:n.*939C>T | |
| ENST00000529191.5:c.114+2904G>A (FTH1) | ENSP00000431659.1:n.114+2904G>A | |
| ENST00000529631.5:c.114+2904G>A (FTH1) | ENSP00000431575.1:n.114+2904G>A | |
| ENST00000530019.5:c.261+961G>A (FTH1) | ENSP00000433470.1:n.261+961G>A | |
| NM_001300786.1:c.*286C>T (BEST1) | NP_001287715.1:n.*286C>T | |
| NM_001300787.1:c.*286C>T (BEST1) | NP_001287716.1:n.*286C>T | |
| NM_002032.2:c.*319G>A (FTH1) | NP_002023.2:n.*319G>A | |
| NM_004183.3:c.*286C>T (BEST1) | NP_004174.1:n.*286C>T | |
| XM_005274210.2:c.*1259C>T (BEST1) | XP_005274267.1:n.*1259C>T | |
| XM_005274215.2:c.*286C>T (BEST1) | XP_005274272.1:n.*286C>T | |
| XM_011545229.1:c.*1259C>T (BEST1) | XP_011543531.1:n.*1259C>T | |
| XM_011545230.1:c.*1259C>T (BEST1) | XP_011543532.1:n.*1259C>T | |
| XM_011545231.1:c.*1259C>T (BEST1) | XP_011543533.1:n.*1259C>T | |
| XM_011545233.1:c.*1259C>T (BEST1) | XP_011543535.1:n.*1259C>T | |
| NM_001363591.1:c.*1259C>T (BEST1) | NP_001350520.1:n.*1259C>T | |
| NM_001363592.1:c.*2149C>T (BEST1) | NP_001350521.1:n.*2149C>T | |
| NM_001363593.1:c.*1259C>T (BEST1) | NP_001350522.1:n.*1259C>T | |
| NR_134580.1:n.2827C>T (BEST1) | ||
| XM_005274210.4:c.*1259C>T (BEST1) | XP_005274267.1:n.*1259C>T | |
| XM_005274215.4:c.*286C>T (BEST1) | XP_005274272.1:n.*286C>T | |
| XM_005274216.4:c.*2149C>T (BEST1) | XP_005274273.1:n.*2149C>T | |
| XM_005274219.4:c.*2055C>T (BEST1) | XP_005274276.1:n.*2055C>T | |
| XM_005274221.4:c.*2055C>T (BEST1) | XP_005274278.1:n.*2055C>T | |
| XM_011545229.3:c.*1259C>T (BEST1) | XP_011543531.1:n.*1259C>T | |
| XM_011545230.3:c.*1259C>T (BEST1) | XP_011543532.1:n.*1259C>T | |
| XM_011545233.3:c.*1259C>T (BEST1) | XP_011543535.1:n.*1259C>T | |
| XM_017018230.2:c.*2149C>T (BEST1) | XP_016873719.1:n.*2149C>T | |
| XR_001747952.2:n.2745C>T (BEST1) | ||
| XR_001747953.2:n.2501C>T (BEST1) | ||
| XR_001747954.2:n.2348C>T (BEST1) | ||
| NM_002032.3:c.*319G>A (FTH1) MANE Select | NP_002023.2:n.*319G>A | |
| NM_004183.4:c.*286C>T (BEST1) MANE Select | NP_004174.1:n.*286C>T | |
| NM_001139443.2:c.*1259C>T (BEST1) | NP_001132915.1:n.*1259C>T | |
| NM_001300786.2:c.*286C>T (BEST1) | NP_001287715.1:n.*286C>T | |
| NM_001300787.2:c.*286C>T (BEST1) | NP_001287716.1:n.*286C>T | |
| NM_001363591.2:c.*1259C>T (BEST1) | NP_001350520.1:n.*1259C>T | |
| NM_001363593.2:c.*1259C>T (BEST1) | NP_001350522.1:n.*1259C>T | |
| NR_134580.2:n.2360C>T (BEST1) |