Linked Data
ClinVar Variation Id:
99682
ClinVar RCV Id:
RCV000086090
RCV000152856
RCV000326254
RCV000344805
RCV000398299
RCV000314627
RCV001108732
RCV003888492
dbSNP Id:
rs1800009
ExAC:
11:61730234 T / C
gnomAD v2:
11-61730234-T-C
gnomAD v3:
11-61962762-T-C
gnomAD v4:
11-61962762-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61962762T>C , CM000673.2:g.61962762T>C | GRCh38 |
| NC_000011.9:g.61730234T>C , CM000673.1:g.61730234T>C | GRCh37 |
| NC_000011.8:g.61486810T>C | NCBI36 |
| NG_008346.1:g.9899A>G | |
| NG_009033.1:g.17879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.1608T>C (BEST1) MANE Select | ENSP00000367282.4:p.Thr536= | |
| ENST00000378043.8:c.1608T>C (BEST1) | ENSP00000367282.4:p.Thr536= | |
| ENST00000449131.6:c.1428T>C (BEST1) | ENSP00000399709.2:p.Thr476= | |
| ENST00000524877.5:n.5450T>C (BEST1) | ||
| ENST00000524926.5:c.*503T>C (BEST1) | ENSP00000432681.1:n.*503T>C | |
| ENST00000529191.5:c.115-2835A>G (FTH1) | ENSP00000431659.1:n.115-2835A>G | |
| ENST00000529631.5:c.115-2858A>G (FTH1) | ENSP00000431575.1:n.115-2858A>G | |
| ENST00000530019.5:c.261+2607A>G (FTH1) | ENSP00000433470.1:n.261+2607A>G | |
| ENST00000534553.5:c.*503T>C (BEST1) | ENSP00000431189.1:n.*503T>C | |
| NM_001139443.1:c.1428T>C (BEST1) | NP_001132915.1:p.Thr476= | |
| NM_001300786.1:c.1347T>C (BEST1) | NP_001287715.1:p.Thr449= | |
| NM_001300787.1:c.1428T>C (BEST1) | NP_001287716.1:p.Thr476= | |
| NM_004183.3:c.1608T>C (BEST1) | NP_004174.1:p.Thr536= | |
| XM_005274210.2:c.1608T>C (BEST1) | XP_005274267.1:p.Thr536= | |
| XM_005274215.2:c.1290T>C (BEST1) | XP_005274272.1:p.Thr430= | |
| XM_005274216.2:c.*503T>C (BEST1) | XP_005274273.1:n.*503T>C | |
| XM_005274218.3:c.*503T>C (BEST1) | XP_005274275.1:n.*503T>C | |
| XM_005274219.2:c.*409T>C (BEST1) | XP_005274276.1:n.*409T>C | |
| XM_005274221.2:c.*409T>C (BEST1) | XP_005274278.1:n.*409T>C | |
| XM_011545229.1:c.1608T>C (BEST1) | XP_011543531.1:p.Thr536= | |
| XM_011545230.1:c.1515T>C (BEST1) | XP_011543532.1:p.Thr505= | |
| XM_011545231.1:c.1290T>C (BEST1) | XP_011543533.1:p.Thr430= | |
| XM_011545232.1:c.*503T>C (BEST1) | XP_011543534.1:n.*503T>C | |
| XM_011545233.1:c.765T>C (BEST1) | XP_011543535.1:p.Thr255= | |
| NM_001363591.1:c.1290T>C (BEST1) | NP_001350520.1:p.Thr430= | |
| NM_001363592.1:c.*503T>C (BEST1) | NP_001350521.1:n.*503T>C | |
| NM_001363593.1:c.636T>C (BEST1) | NP_001350522.1:p.Thr212= | |
| NR_134580.1:n.2391T>C (BEST1) | ||
| XM_005274210.4:c.1608T>C (BEST1) | XP_005274267.1:p.Thr536= | |
| XM_005274215.4:c.1290T>C (BEST1) | XP_005274272.1:p.Thr430= | |
| XM_005274216.4:c.*503T>C (BEST1) | XP_005274273.1:n.*503T>C | |
| XM_005274219.4:c.*409T>C (BEST1) | XP_005274276.1:n.*409T>C | |
| XM_005274221.4:c.*409T>C (BEST1) | XP_005274278.1:n.*409T>C | |
| XM_011545229.3:c.1608T>C (BEST1) | XP_011543531.1:p.Thr536= | |
| XM_011545230.3:c.1515T>C (BEST1) | XP_011543532.1:p.Thr505= | |
| XM_011545233.3:c.765T>C (BEST1) | XP_011543535.1:p.Thr255= | |
| XM_017018230.2:c.*503T>C (BEST1) | XP_016873719.1:n.*503T>C | |
| XR_001747952.2:n.2309T>C (BEST1) | ||
| XR_001747953.2:n.2065T>C (BEST1) | ||
| XR_001747954.2:n.1912T>C (BEST1) | ||
| NM_004183.4:c.1608T>C (BEST1) MANE Select | NP_004174.1:p.Thr536= | |
| NM_001139443.2:c.1428T>C (BEST1) | NP_001132915.1:p.Thr476= | |
| NM_001300786.2:c.1347T>C (BEST1) | NP_001287715.1:p.Thr449= | |
| NM_001300787.2:c.1428T>C (BEST1) | NP_001287716.1:p.Thr476= | |
| NM_001363591.2:c.1290T>C (BEST1) | NP_001350520.1:p.Thr430= | |
| NM_001363593.2:c.636T>C (BEST1) | NP_001350522.1:p.Thr212= | |
| NR_134580.2:n.1924T>C (BEST1) |