Linked Data
ClinVar Variation Id:
305123
dbSNP Id:
rs144231113
ExAC:
11:61727369 C / G
gnomAD v2:
11-61727369-C-G
gnomAD v3:
11-61959897-C-G
gnomAD v4:
11-61959897-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959897C>G , CM000673.2:g.61959897C>G | GRCh38 |
| NC_000011.9:g.61727369C>G , CM000673.1:g.61727369C>G | GRCh37 |
| NC_000011.8:g.61483945C>G | NCBI36 |
| NG_009033.1:g.15014C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.954C>G (BEST1) MANE Select | ENSP00000367282.4:p.Ser318= | |
| ENST00000378043.8:c.954C>G (BEST1) | ENSP00000367282.4:p.Ser318= | |
| ENST00000449131.6:c.774C>G (BEST1) | ENSP00000399709.2:p.Ser258= | |
| ENST00000524877.5:n.2585C>G (BEST1) | ||
| ENST00000524926.5:c.1157C>G (BEST1) | ENSP00000432681.1:p.Pro386Arg | |
| ENST00000526988.1:c.839C>G (BEST1) | ENSP00000433195.1:p.Pro280Arg | |
| ENST00000529191.5:c.145G>C (FTH1) | ENSP00000431659.1:p.Gly49Arg | |
| ENST00000529631.5:c.122G>C (FTH1) | ENSP00000431575.1:p.Gly41Ala | |
| ENST00000530019.5:c.269G>C (FTH1) | ENSP00000433470.1:p.Gly90Ala | |
| ENST00000534553.5:c.164-2358C>G (BEST1) | ENSP00000431189.1:n.164-2358C>G | |
| NM_001139443.1:c.774C>G (BEST1) | NP_001132915.1:p.Ser258= | |
| NM_001300786.1:c.693C>G (BEST1) | NP_001287715.1:p.Ser231= | |
| NM_001300787.1:c.774C>G (BEST1) | NP_001287716.1:p.Ser258= | |
| NM_004183.3:c.954C>G (BEST1) | NP_004174.1:p.Ser318= | |
| XM_005274210.2:c.954C>G (BEST1) | XP_005274267.1:p.Ser318= | |
| XM_005274215.2:c.636C>G (BEST1) | XP_005274272.1:p.Ser212= | |
| XM_005274216.2:c.977C>G (BEST1) | XP_005274273.1:p.Pro326Arg | |
| XM_005274218.3:c.839C>G (BEST1) | XP_005274275.1:p.Pro280Arg | |
| XM_005274219.2:c.867+1599C>G (BEST1) | XP_005274276.1:n.867+1599C>G | |
| XM_005274221.2:c.715-2358C>G (BEST1) | XP_005274278.1:n.715-2358C>G | |
| XM_011545229.1:c.954C>G (BEST1) | XP_011543531.1:p.Ser318= | |
| XM_011545230.1:c.861C>G (BEST1) | XP_011543532.1:p.Ser287= | |
| XM_011545231.1:c.636C>G (BEST1) | XP_011543533.1:p.Ser212= | |
| XM_011545232.1:c.1157C>G (BEST1) | XP_011543534.1:p.Pro386Arg | |
| XM_011545233.1:c.111C>G (BEST1) | XP_011543535.1:p.Ser37= | |
| NM_001363591.1:c.636C>G (BEST1) | NP_001350520.1:p.Ser212= | |
| NM_001363592.1:c.1157C>G (BEST1) | NP_001350521.1:p.Pro386Arg | |
| NM_001363593.1:c.-19C>G (BEST1) | NP_001350522.1:n.-19C>G | |
| NR_134580.1:n.1737C>G (BEST1) | ||
| XM_005274210.4:c.954C>G (BEST1) | XP_005274267.1:p.Ser318= | |
| XM_005274215.4:c.636C>G (BEST1) | XP_005274272.1:p.Ser212= | |
| XM_005274216.4:c.977C>G (BEST1) | XP_005274273.1:p.Pro326Arg | |
| XM_005274219.4:c.867+1599C>G (BEST1) | XP_005274276.1:n.867+1599C>G | |
| XM_005274221.4:c.715-2358C>G (BEST1) | XP_005274278.1:n.715-2358C>G | |
| XM_011545229.3:c.954C>G (BEST1) | XP_011543531.1:p.Ser318= | |
| XM_011545230.3:c.861C>G (BEST1) | XP_011543532.1:p.Ser287= | |
| XM_011545233.3:c.111C>G (BEST1) | XP_011543535.1:p.Ser37= | |
| XM_017018230.2:c.839C>G (BEST1) | XP_016873719.1:p.Pro280Arg | |
| XR_001747952.2:n.1655C>G (BEST1) | ||
| XR_001747953.2:n.1557+1599C>G (BEST1) | ||
| XR_001747954.2:n.1405-2358C>G (BEST1) | ||
| XR_001748245.1:n.31G>C | ||
| XR_002957249.1:n.31G>C | ||
| NM_004183.4:c.954C>G (BEST1) MANE Select | NP_004174.1:p.Ser318= | |
| NM_001139443.2:c.774C>G (BEST1) | NP_001132915.1:p.Ser258= | |
| NM_001300786.2:c.693C>G (BEST1) | NP_001287715.1:p.Ser231= | |
| NM_001300787.2:c.774C>G (BEST1) | NP_001287716.1:p.Ser258= | |
| NM_001363591.2:c.636C>G (BEST1) | NP_001350520.1:p.Ser212= | |
| NM_001363593.2:c.-19C>G (BEST1) | NP_001350522.1:n.-19C>G | |
| NR_134580.2:n.1270C>G (BEST1) |