Linked Data
ClinVar Variation Id:
305136
ClinVar RCV Id:
RCV000335527
dbSNP Id:
rs886048429
gnomAD v3:
11-61964342-A-C
gnomAD v4:
11-61964342-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964342A>C , CM000673.2:g.61964342A>C | GRCh38 |
| NC_000011.9:g.61731814A>C , CM000673.1:g.61731814A>C | GRCh37 |
| NC_000011.8:g.61488390A>C | NCBI36 |
| NG_008346.1:g.8319T>G | |
| NG_009033.1:g.19459A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273550.12:c.*385T>G (FTH1) MANE Select | ENSP00000273550.7:n.*385T>G | |
| ENST00000378043.9:c.*220A>C (BEST1) MANE Select | ENSP00000367282.4:n.*220A>C | |
| ENST00000273550.11:c.*385T>G (FTH1) | ENSP00000273550.7:n.*385T>G | |
| ENST00000378043.8:c.*220A>C (BEST1) | ENSP00000367282.4:n.*220A>C | |
| ENST00000449131.6:c.*1193A>C (BEST1) | ENSP00000399709.2:n.*1193A>C | |
| ENST00000524926.5:c.*873A>C (BEST1) | ENSP00000432681.1:n.*873A>C | |
| ENST00000529191.5:c.114+2970T>G (FTH1) | ENSP00000431659.1:n.114+2970T>G | |
| ENST00000529631.5:c.114+2970T>G (FTH1) | ENSP00000431575.1:n.114+2970T>G | |
| ENST00000530019.5:c.261+1027T>G (FTH1) | ENSP00000433470.1:n.261+1027T>G | |
| NM_001300786.1:c.*220A>C (BEST1) | NP_001287715.1:n.*220A>C | |
| NM_001300787.1:c.*220A>C (BEST1) | NP_001287716.1:n.*220A>C | |
| NM_002032.2:c.*385T>G (FTH1) | NP_002023.2:n.*385T>G | |
| NM_004183.3:c.*220A>C (BEST1) | NP_004174.1:n.*220A>C | |
| XM_005274210.2:c.*1193A>C (BEST1) | XP_005274267.1:n.*1193A>C | |
| XM_005274215.2:c.*220A>C (BEST1) | XP_005274272.1:n.*220A>C | |
| XM_011545229.1:c.*1193A>C (BEST1) | XP_011543531.1:n.*1193A>C | |
| XM_011545230.1:c.*1193A>C (BEST1) | XP_011543532.1:n.*1193A>C | |
| XM_011545231.1:c.*1193A>C (BEST1) | XP_011543533.1:n.*1193A>C | |
| XM_011545233.1:c.*1193A>C (BEST1) | XP_011543535.1:n.*1193A>C | |
| NM_001363591.1:c.*1193A>C (BEST1) | NP_001350520.1:n.*1193A>C | |
| NM_001363592.1:c.*2083A>C (BEST1) | NP_001350521.1:n.*2083A>C | |
| NM_001363593.1:c.*1193A>C (BEST1) | NP_001350522.1:n.*1193A>C | |
| NR_134580.1:n.2761A>C (BEST1) | ||
| XM_005274210.4:c.*1193A>C (BEST1) | XP_005274267.1:n.*1193A>C | |
| XM_005274215.4:c.*220A>C (BEST1) | XP_005274272.1:n.*220A>C | |
| XM_005274216.4:c.*2083A>C (BEST1) | XP_005274273.1:n.*2083A>C | |
| XM_005274219.4:c.*1989A>C (BEST1) | XP_005274276.1:n.*1989A>C | |
| XM_005274221.4:c.*1989A>C (BEST1) | XP_005274278.1:n.*1989A>C | |
| XM_011545229.3:c.*1193A>C (BEST1) | XP_011543531.1:n.*1193A>C | |
| XM_011545230.3:c.*1193A>C (BEST1) | XP_011543532.1:n.*1193A>C | |
| XM_011545233.3:c.*1193A>C (BEST1) | XP_011543535.1:n.*1193A>C | |
| XM_017018230.2:c.*2083A>C (BEST1) | XP_016873719.1:n.*2083A>C | |
| XR_001747952.2:n.2679A>C (BEST1) | ||
| XR_001747953.2:n.2435A>C (BEST1) | ||
| XR_001747954.2:n.2282A>C (BEST1) | ||
| NM_002032.3:c.*385T>G (FTH1) MANE Select | NP_002023.2:n.*385T>G | |
| NM_004183.4:c.*220A>C (BEST1) MANE Select | NP_004174.1:n.*220A>C | |
| NM_001139443.2:c.*1193A>C (BEST1) | NP_001132915.1:n.*1193A>C | |
| NM_001300786.2:c.*220A>C (BEST1) | NP_001287715.1:n.*220A>C | |
| NM_001300787.2:c.*220A>C (BEST1) | NP_001287716.1:n.*220A>C | |
| NM_001363591.2:c.*1193A>C (BEST1) | NP_001350520.1:n.*1193A>C | |
| NM_001363593.2:c.*1193A>C (BEST1) | NP_001350522.1:n.*1193A>C | |
| NR_134580.2:n.2294A>C (BEST1) |