Linked Data
ClinVar Variation Id:
305133
dbSNP Id:
rs1801621
gnomAD v2:
11-61731727-T-C
gnomAD v3:
11-61964255-T-C
gnomAD v4:
11-61964255-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964255T>C , CM000673.2:g.61964255T>C | GRCh38 |
| NC_000011.9:g.61731727T>C , CM000673.1:g.61731727T>C | GRCh37 |
| NC_000011.8:g.61488303T>C | NCBI36 |
| NG_008346.1:g.8406A>G | |
| NG_009033.1:g.19372T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.*133T>C (BEST1) MANE Select | ENSP00000367282.4:n.*133T>C | |
| ENST00000378043.8:c.*133T>C (BEST1) | ENSP00000367282.4:n.*133T>C | |
| ENST00000449131.6:c.*1106T>C (BEST1) | ENSP00000399709.2:n.*1106T>C | |
| ENST00000524877.5:n.5733T>C (BEST1) | ||
| ENST00000524926.5:c.*786T>C (BEST1) | ENSP00000432681.1:n.*786T>C | |
| ENST00000529191.5:c.114+3057A>G (FTH1) | ENSP00000431659.1:n.114+3057A>G | |
| ENST00000529631.5:c.114+3057A>G (FTH1) | ENSP00000431575.1:n.114+3057A>G | |
| ENST00000530019.5:c.261+1114A>G (FTH1) | ENSP00000433470.1:n.261+1114A>G | |
| NM_001300786.1:c.*133T>C (BEST1) | NP_001287715.1:n.*133T>C | |
| NM_001300787.1:c.*133T>C (BEST1) | NP_001287716.1:n.*133T>C | |
| NM_004183.3:c.*133T>C (BEST1) | NP_004174.1:n.*133T>C | |
| XM_005274210.2:c.*1106T>C (BEST1) | XP_005274267.1:n.*1106T>C | |
| XM_005274215.2:c.*133T>C (BEST1) | XP_005274272.1:n.*133T>C | |
| XM_011545229.1:c.*1106T>C (BEST1) | XP_011543531.1:n.*1106T>C | |
| XM_011545230.1:c.*1106T>C (BEST1) | XP_011543532.1:n.*1106T>C | |
| XM_011545231.1:c.*1106T>C (BEST1) | XP_011543533.1:n.*1106T>C | |
| XM_011545233.1:c.*1106T>C (BEST1) | XP_011543535.1:n.*1106T>C | |
| NM_001363591.1:c.*1106T>C (BEST1) | NP_001350520.1:n.*1106T>C | |
| NM_001363592.1:c.*1996T>C (BEST1) | NP_001350521.1:n.*1996T>C | |
| NM_001363593.1:c.*1106T>C (BEST1) | NP_001350522.1:n.*1106T>C | |
| NR_134580.1:n.2674T>C (BEST1) | ||
| XM_005274210.4:c.*1106T>C (BEST1) | XP_005274267.1:n.*1106T>C | |
| XM_005274215.4:c.*133T>C (BEST1) | XP_005274272.1:n.*133T>C | |
| XM_005274216.4:c.*1996T>C (BEST1) | XP_005274273.1:n.*1996T>C | |
| XM_005274219.4:c.*1902T>C (BEST1) | XP_005274276.1:n.*1902T>C | |
| XM_005274221.4:c.*1902T>C (BEST1) | XP_005274278.1:n.*1902T>C | |
| XM_011545229.3:c.*1106T>C (BEST1) | XP_011543531.1:n.*1106T>C | |
| XM_011545230.3:c.*1106T>C (BEST1) | XP_011543532.1:n.*1106T>C | |
| XM_011545233.3:c.*1106T>C (BEST1) | XP_011543535.1:n.*1106T>C | |
| XM_017018230.2:c.*1996T>C (BEST1) | XP_016873719.1:n.*1996T>C | |
| XR_001747952.2:n.2592T>C (BEST1) | ||
| XR_001747953.2:n.2348T>C (BEST1) | ||
| XR_001747954.2:n.2195T>C (BEST1) | ||
| NM_004183.4:c.*133T>C (BEST1) MANE Select | NP_004174.1:n.*133T>C | |
| NM_001139443.2:c.*1106T>C (BEST1) | NP_001132915.1:n.*1106T>C | |
| NM_001300786.2:c.*133T>C (BEST1) | NP_001287715.1:n.*133T>C | |
| NM_001300787.2:c.*133T>C (BEST1) | NP_001287716.1:n.*133T>C | |
| NM_001363591.2:c.*1106T>C (BEST1) | NP_001350520.1:n.*1106T>C | |
| NM_001363593.2:c.*1106T>C (BEST1) | NP_001350522.1:n.*1106T>C | |
| NR_134580.2:n.2207T>C (BEST1) |