Linked Data
ClinVar Variation Id:
940070
dbSNP Id:
rs201386186
ExAC:
11:61727407 G / A
gnomAD v2:
11-61727407-G-A
gnomAD v3:
11-61959935-G-A
gnomAD v4:
11-61959935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959935G>A , CM000673.2:g.61959935G>A | GRCh38 |
| NC_000011.9:g.61727407G>A , CM000673.1:g.61727407G>A | GRCh37 |
| NC_000011.8:g.61483983G>A | NCBI36 |
| NG_009033.1:g.15052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.992G>A (BEST1) MANE Select | ENSP00000367282.4:p.Arg331Gln | |
| ENST00000378043.8:c.992G>A (BEST1) | ENSP00000367282.4:p.Arg331Gln | |
| ENST00000449131.6:c.812G>A (BEST1) | ENSP00000399709.2:p.Arg271Gln | |
| ENST00000524877.5:n.2623G>A (BEST1) | ||
| ENST00000524926.5:c.1195G>A (BEST1) | ENSP00000432681.1:p.Gly399Arg | |
| ENST00000526988.1:c.877G>A (BEST1) | ENSP00000433195.1:p.Gly293Arg | |
| ENST00000529191.5:c.115-8C>T (FTH1) | ENSP00000431659.1:n.115-8C>T | |
| ENST00000529631.5:c.115-31C>T (FTH1) | ENSP00000431575.1:n.115-31C>T | |
| ENST00000530019.5:c.262-31C>T (FTH1) | ENSP00000433470.1:n.262-31C>T | |
| ENST00000534553.5:c.164-2320G>A (BEST1) | ENSP00000431189.1:n.164-2320G>A | |
| NM_001139443.1:c.812G>A (BEST1) | NP_001132915.1:p.Arg271Gln | |
| NM_001300786.1:c.731G>A (BEST1) | NP_001287715.1:p.Arg244Gln | |
| NM_001300787.1:c.812G>A (BEST1) | NP_001287716.1:p.Arg271Gln | |
| NM_004183.3:c.992G>A (BEST1) | NP_004174.1:p.Arg331Gln | |
| XM_005274210.2:c.992G>A (BEST1) | XP_005274267.1:p.Arg331Gln | |
| XM_005274215.2:c.674G>A (BEST1) | XP_005274272.1:p.Arg225Gln | |
| XM_005274216.2:c.1015G>A (BEST1) | XP_005274273.1:p.Gly339Arg | |
| XM_005274218.3:c.877G>A (BEST1) | XP_005274275.1:p.Gly293Arg | |
| XM_005274219.2:c.867+1637G>A (BEST1) | XP_005274276.1:n.867+1637G>A | |
| XM_005274221.2:c.715-2320G>A (BEST1) | XP_005274278.1:n.715-2320G>A | |
| XM_011545229.1:c.992G>A (BEST1) | XP_011543531.1:p.Arg331Gln | |
| XM_011545230.1:c.899G>A (BEST1) | XP_011543532.1:p.Arg300Gln | |
| XM_011545231.1:c.674G>A (BEST1) | XP_011543533.1:p.Arg225Gln | |
| XM_011545232.1:c.1195G>A (BEST1) | XP_011543534.1:p.Gly399Arg | |
| XM_011545233.1:c.149G>A (BEST1) | XP_011543535.1:p.Arg50Gln | |
| NM_001363591.1:c.674G>A (BEST1) | NP_001350520.1:p.Arg225Gln | |
| NM_001363592.1:c.1195G>A (BEST1) | NP_001350521.1:p.Gly399Arg | |
| NM_001363593.1:c.20G>A (BEST1) | NP_001350522.1:p.Arg7Gln | |
| NR_134580.1:n.1775G>A (BEST1) | ||
| XM_005274210.4:c.992G>A (BEST1) | XP_005274267.1:p.Arg331Gln | |
| XM_005274215.4:c.674G>A (BEST1) | XP_005274272.1:p.Arg225Gln | |
| XM_005274216.4:c.1015G>A (BEST1) | XP_005274273.1:p.Gly339Arg | |
| XM_005274219.4:c.867+1637G>A (BEST1) | XP_005274276.1:n.867+1637G>A | |
| XM_005274221.4:c.715-2320G>A (BEST1) | XP_005274278.1:n.715-2320G>A | |
| XM_011545229.3:c.992G>A (BEST1) | XP_011543531.1:p.Arg331Gln | |
| XM_011545230.3:c.899G>A (BEST1) | XP_011543532.1:p.Arg300Gln | |
| XM_011545233.3:c.149G>A (BEST1) | XP_011543535.1:p.Arg50Gln | |
| XM_017018230.2:c.877G>A (BEST1) | XP_016873719.1:p.Gly293Arg | |
| XR_001747952.2:n.1693G>A (BEST1) | ||
| XR_001747953.2:n.1557+1637G>A (BEST1) | ||
| XR_001747954.2:n.1405-2320G>A (BEST1) | ||
| NM_004183.4:c.992G>A (BEST1) MANE Select | NP_004174.1:p.Arg331Gln | |
| NM_001139443.2:c.812G>A (BEST1) | NP_001132915.1:p.Arg271Gln | |
| NM_001300786.2:c.731G>A (BEST1) | NP_001287715.1:p.Arg244Gln | |
| NM_001300787.2:c.812G>A (BEST1) | NP_001287716.1:p.Arg271Gln | |
| NM_001363591.2:c.674G>A (BEST1) | NP_001350520.1:p.Arg225Gln | |
| NM_001363593.2:c.20G>A (BEST1) | NP_001350522.1:p.Arg7Gln | |
| NR_134580.2:n.1308G>A (BEST1) |