Linked Data
ClinVar Variation Id:
305125
ClinVar RCV Id:
RCV000269600
RCV000300553
RCV000333972
RCV000388625
RCV000885201
RCV001106455
RCV003888716
dbSNP Id:
rs17854138
ExAC:
11:61727485 C / T
gnomAD v2:
11-61727485-C-T
gnomAD v3:
11-61960013-C-T
gnomAD v4:
11-61960013-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61960013C>T , CM000673.2:g.61960013C>T | GRCh38 |
| NC_000011.9:g.61727485C>T , CM000673.1:g.61727485C>T | GRCh37 |
| NC_000011.8:g.61484061C>T | NCBI36 |
| NG_009033.1:g.15130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.1070C>T (BEST1) MANE Select | ENSP00000367282.4:p.Ala357Val | |
| ENST00000378043.8:c.1070C>T (BEST1) | ENSP00000367282.4:p.Ala357Val | |
| ENST00000449131.6:c.890C>T (BEST1) | ENSP00000399709.2:p.Ala297Val | |
| ENST00000524877.5:n.2701C>T (BEST1) | ||
| ENST00000524926.5:c.1273C>T (BEST1) | ENSP00000432681.1:p.Pro425Ser | |
| ENST00000526988.1:c.955C>T (BEST1) | ENSP00000433195.1:p.Pro319Ser | |
| ENST00000529191.5:c.115-86G>A (FTH1) | ENSP00000431659.1:n.115-86G>A | |
| ENST00000529631.5:c.115-109G>A (FTH1) | ENSP00000431575.1:n.115-109G>A | |
| ENST00000530019.5:c.262-109G>A (FTH1) | ENSP00000433470.1:n.262-109G>A | |
| ENST00000534553.5:c.164-2242C>T (BEST1) | ENSP00000431189.1:n.164-2242C>T | |
| NM_001139443.1:c.890C>T (BEST1) | NP_001132915.1:p.Ala297Val | |
| NM_001300786.1:c.809C>T (BEST1) | NP_001287715.1:p.Ala270Val | |
| NM_001300787.1:c.890C>T (BEST1) | NP_001287716.1:p.Ala297Val | |
| NM_004183.3:c.1070C>T (BEST1) | NP_004174.1:p.Ala357Val | |
| XM_005274210.2:c.1070C>T (BEST1) | XP_005274267.1:p.Ala357Val | |
| XM_005274215.2:c.752C>T (BEST1) | XP_005274272.1:p.Ala251Val | |
| XM_005274216.2:c.1093C>T (BEST1) | XP_005274273.1:p.Pro365Ser | |
| XM_005274218.3:c.955C>T (BEST1) | XP_005274275.1:p.Pro319Ser | |
| XM_005274219.2:c.867+1715C>T (BEST1) | XP_005274276.1:n.867+1715C>T | |
| XM_005274221.2:c.715-2242C>T (BEST1) | XP_005274278.1:n.715-2242C>T | |
| XM_011545229.1:c.1070C>T (BEST1) | XP_011543531.1:p.Ala357Val | |
| XM_011545230.1:c.977C>T (BEST1) | XP_011543532.1:p.Ala326Val | |
| XM_011545231.1:c.752C>T (BEST1) | XP_011543533.1:p.Ala251Val | |
| XM_011545232.1:c.1273C>T (BEST1) | XP_011543534.1:p.Pro425Ser | |
| XM_011545233.1:c.227C>T (BEST1) | XP_011543535.1:p.Ala76Val | |
| NM_001363591.1:c.752C>T (BEST1) | NP_001350520.1:p.Ala251Val | |
| NM_001363592.1:c.1273C>T (BEST1) | NP_001350521.1:p.Pro425Ser | |
| NM_001363593.1:c.98C>T (BEST1) | NP_001350522.1:p.Ala33Val | |
| NR_134580.1:n.1853C>T (BEST1) | ||
| XM_005274210.4:c.1070C>T (BEST1) | XP_005274267.1:p.Ala357Val | |
| XM_005274215.4:c.752C>T (BEST1) | XP_005274272.1:p.Ala251Val | |
| XM_005274216.4:c.1093C>T (BEST1) | XP_005274273.1:p.Pro365Ser | |
| XM_005274219.4:c.867+1715C>T (BEST1) | XP_005274276.1:n.867+1715C>T | |
| XM_005274221.4:c.715-2242C>T (BEST1) | XP_005274278.1:n.715-2242C>T | |
| XM_011545229.3:c.1070C>T (BEST1) | XP_011543531.1:p.Ala357Val | |
| XM_011545230.3:c.977C>T (BEST1) | XP_011543532.1:p.Ala326Val | |
| XM_011545233.3:c.227C>T (BEST1) | XP_011543535.1:p.Ala76Val | |
| XM_017018230.2:c.955C>T (BEST1) | XP_016873719.1:p.Pro319Ser | |
| XR_001747952.2:n.1771C>T (BEST1) | ||
| XR_001747953.2:n.1557+1715C>T (BEST1) | ||
| XR_001747954.2:n.1405-2242C>T (BEST1) | ||
| NM_004183.4:c.1070C>T (BEST1) MANE Select | NP_004174.1:p.Ala357Val | |
| NM_001139443.2:c.890C>T (BEST1) | NP_001132915.1:p.Ala297Val | |
| NM_001300786.2:c.809C>T (BEST1) | NP_001287715.1:p.Ala270Val | |
| NM_001300787.2:c.890C>T (BEST1) | NP_001287716.1:p.Ala297Val | |
| NM_001363591.2:c.752C>T (BEST1) | NP_001350520.1:p.Ala251Val | |
| NM_001363593.2:c.98C>T (BEST1) | NP_001350522.1:p.Ala33Val | |
| NR_134580.2:n.1386C>T (BEST1) |