Linked Data
ClinVar Variation Id:
99686
dbSNP Id:
rs148060787
ExAC:
11:61730325 C / T
gnomAD v2:
11-61730325-C-T
gnomAD v3:
11-61962853-C-T
gnomAD v4:
11-61962853-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61962853C>T , CM000673.2:g.61962853C>T | GRCh38 |
| NC_000011.9:g.61730325C>T , CM000673.1:g.61730325C>T | GRCh37 |
| NC_000011.8:g.61486901C>T | NCBI36 |
| NG_008346.1:g.9808G>A | |
| NG_009033.1:g.17970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.1699C>T (BEST1) MANE Select | ENSP00000367282.4:p.Leu567Phe | |
| ENST00000378043.8:c.1699C>T (BEST1) | ENSP00000367282.4:p.Leu567Phe | |
| ENST00000449131.6:c.1519C>T (BEST1) | ENSP00000399709.2:p.Leu507Phe | |
| ENST00000524877.5:n.5541C>T (BEST1) | ||
| ENST00000524926.5:c.*594C>T (BEST1) | ENSP00000432681.1:n.*594C>T | |
| ENST00000529191.5:c.115-2926G>A (FTH1) | ENSP00000431659.1:n.115-2926G>A | |
| ENST00000529631.5:c.115-2949G>A (FTH1) | ENSP00000431575.1:n.115-2949G>A | |
| ENST00000530019.5:c.261+2516G>A (FTH1) | ENSP00000433470.1:n.261+2516G>A | |
| ENST00000534553.5:c.*594C>T (BEST1) | ENSP00000431189.1:n.*594C>T | |
| NM_001139443.1:c.1519C>T (BEST1) | NP_001132915.1:p.Leu507Phe | |
| NM_001300786.1:c.1438C>T (BEST1) | NP_001287715.1:p.Leu480Phe | |
| NM_001300787.1:c.1519C>T (BEST1) | NP_001287716.1:p.Leu507Phe | |
| NM_004183.3:c.1699C>T (BEST1) | NP_004174.1:p.Leu567Phe | |
| XM_005274210.2:c.1699C>T (BEST1) | XP_005274267.1:p.Leu567Phe | |
| XM_005274215.2:c.1381C>T (BEST1) | XP_005274272.1:p.Leu461Phe | |
| XM_005274219.2:c.*500C>T (BEST1) | XP_005274276.1:n.*500C>T | |
| XM_005274221.2:c.*500C>T (BEST1) | XP_005274278.1:n.*500C>T | |
| XM_011545229.1:c.1699C>T (BEST1) | XP_011543531.1:p.Leu567Phe | |
| XM_011545230.1:c.1606C>T (BEST1) | XP_011543532.1:p.Leu536Phe | |
| XM_011545231.1:c.1381C>T (BEST1) | XP_011543533.1:p.Leu461Phe | |
| XM_011545233.1:c.856C>T (BEST1) | XP_011543535.1:p.Leu286Phe | |
| NM_001363591.1:c.1381C>T (BEST1) | NP_001350520.1:p.Leu461Phe | |
| NM_001363592.1:c.*594C>T (BEST1) | NP_001350521.1:n.*594C>T | |
| NM_001363593.1:c.727C>T (BEST1) | NP_001350522.1:p.Leu243Phe | |
| NR_134580.1:n.2482C>T (BEST1) | ||
| XM_005274210.4:c.1699C>T (BEST1) | XP_005274267.1:p.Leu567Phe | |
| XM_005274215.4:c.1381C>T (BEST1) | XP_005274272.1:p.Leu461Phe | |
| XM_005274216.4:c.*594C>T (BEST1) | XP_005274273.1:n.*594C>T | |
| XM_005274219.4:c.*500C>T (BEST1) | XP_005274276.1:n.*500C>T | |
| XM_005274221.4:c.*500C>T (BEST1) | XP_005274278.1:n.*500C>T | |
| XM_011545229.3:c.1699C>T (BEST1) | XP_011543531.1:p.Leu567Phe | |
| XM_011545230.3:c.1606C>T (BEST1) | XP_011543532.1:p.Leu536Phe | |
| XM_011545233.3:c.856C>T (BEST1) | XP_011543535.1:p.Leu286Phe | |
| XM_017018230.2:c.*594C>T (BEST1) | XP_016873719.1:n.*594C>T | |
| XR_001747952.2:n.2400C>T (BEST1) | ||
| XR_001747953.2:n.2156C>T (BEST1) | ||
| XR_001747954.2:n.2003C>T (BEST1) | ||
| NM_004183.4:c.1699C>T (BEST1) MANE Select | NP_004174.1:p.Leu567Phe | |
| NM_001139443.2:c.1519C>T (BEST1) | NP_001132915.1:p.Leu507Phe | |
| NM_001300786.2:c.1438C>T (BEST1) | NP_001287715.1:p.Leu480Phe | |
| NM_001300787.2:c.1519C>T (BEST1) | NP_001287716.1:p.Leu507Phe | |
| NM_001363591.2:c.1381C>T (BEST1) | NP_001350520.1:p.Leu461Phe | |
| NM_001363593.2:c.727C>T (BEST1) | NP_001350522.1:p.Leu243Phe | |
| NR_134580.2:n.2015C>T (BEST1) |