Linked Data
ClinVar Variation Id:
2180873
ClinVar RCV Id:
RCV002603043
dbSNP Id:
rs765333391
ExAC:
11:61727378 T / C
gnomAD v2:
11-61727378-T-C
gnomAD v3:
11-61959906-T-C
gnomAD v4:
11-61959906-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959906T>C , CM000673.2:g.61959906T>C | GRCh38 |
| NC_000011.9:g.61727378T>C , CM000673.1:g.61727378T>C | GRCh37 |
| NC_000011.8:g.61483954T>C | NCBI36 |
| NG_009033.1:g.15023T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.963T>C (BEST1) MANE Select | ENSP00000367282.4:p.Ala321= | |
| ENST00000378043.8:c.963T>C (BEST1) | ENSP00000367282.4:p.Ala321= | |
| ENST00000449131.6:c.783T>C (BEST1) | ENSP00000399709.2:p.Ala261= | |
| ENST00000524877.5:n.2594T>C (BEST1) | ||
| ENST00000524926.5:c.1166T>C (BEST1) | ENSP00000432681.1:p.Leu389Pro | |
| ENST00000526988.1:c.848T>C (BEST1) | ENSP00000433195.1:p.Leu283Pro | |
| ENST00000529191.5:c.136A>G (FTH1) | ENSP00000431659.1:p.Ser46Gly | |
| ENST00000529631.5:c.115-2A>G (FTH1) | ENSP00000431575.1:n.115-2A>G | |
| ENST00000530019.5:c.262-2A>G (FTH1) | ENSP00000433470.1:n.262-2A>G | |
| ENST00000534553.5:c.164-2349T>C (BEST1) | ENSP00000431189.1:n.164-2349T>C | |
| NM_001139443.1:c.783T>C (BEST1) | NP_001132915.1:p.Ala261= | |
| NM_001300786.1:c.702T>C (BEST1) | NP_001287715.1:p.Ala234= | |
| NM_001300787.1:c.783T>C (BEST1) | NP_001287716.1:p.Ala261= | |
| NM_004183.3:c.963T>C (BEST1) | NP_004174.1:p.Ala321= | |
| XM_005274210.2:c.963T>C (BEST1) | XP_005274267.1:p.Ala321= | |
| XM_005274215.2:c.645T>C (BEST1) | XP_005274272.1:p.Ala215= | |
| XM_005274216.2:c.986T>C (BEST1) | XP_005274273.1:p.Leu329Pro | |
| XM_005274218.3:c.848T>C (BEST1) | XP_005274275.1:p.Leu283Pro | |
| XM_005274219.2:c.867+1608T>C (BEST1) | XP_005274276.1:n.867+1608T>C | |
| XM_005274221.2:c.715-2349T>C (BEST1) | XP_005274278.1:n.715-2349T>C | |
| XM_011545229.1:c.963T>C (BEST1) | XP_011543531.1:p.Ala321= | |
| XM_011545230.1:c.870T>C (BEST1) | XP_011543532.1:p.Ala290= | |
| XM_011545231.1:c.645T>C (BEST1) | XP_011543533.1:p.Ala215= | |
| XM_011545232.1:c.1166T>C (BEST1) | XP_011543534.1:p.Leu389Pro | |
| XM_011545233.1:c.120T>C (BEST1) | XP_011543535.1:p.Ala40= | |
| NM_001363591.1:c.645T>C (BEST1) | NP_001350520.1:p.Ala215= | |
| NM_001363592.1:c.1166T>C (BEST1) | NP_001350521.1:p.Leu389Pro | |
| NM_001363593.1:c.-10T>C (BEST1) | NP_001350522.1:n.-10T>C | |
| NR_134580.1:n.1746T>C (BEST1) | ||
| XM_005274210.4:c.963T>C (BEST1) | XP_005274267.1:p.Ala321= | |
| XM_005274215.4:c.645T>C (BEST1) | XP_005274272.1:p.Ala215= | |
| XM_005274216.4:c.986T>C (BEST1) | XP_005274273.1:p.Leu329Pro | |
| XM_005274219.4:c.867+1608T>C (BEST1) | XP_005274276.1:n.867+1608T>C | |
| XM_005274221.4:c.715-2349T>C (BEST1) | XP_005274278.1:n.715-2349T>C | |
| XM_011545229.3:c.963T>C (BEST1) | XP_011543531.1:p.Ala321= | |
| XM_011545230.3:c.870T>C (BEST1) | XP_011543532.1:p.Ala290= | |
| XM_011545233.3:c.120T>C (BEST1) | XP_011543535.1:p.Ala40= | |
| XM_017018230.2:c.848T>C (BEST1) | XP_016873719.1:p.Leu283Pro | |
| XR_001747952.2:n.1664T>C (BEST1) | ||
| XR_001747953.2:n.1557+1608T>C (BEST1) | ||
| XR_001747954.2:n.1405-2349T>C (BEST1) | ||
| XR_001748245.1:n.22A>G | ||
| XR_002957249.1:n.22A>G | ||
| NM_004183.4:c.963T>C (BEST1) MANE Select | NP_004174.1:p.Ala321= | |
| NM_001139443.2:c.783T>C (BEST1) | NP_001132915.1:p.Ala261= | |
| NM_001300786.2:c.702T>C (BEST1) | NP_001287715.1:p.Ala234= | |
| NM_001300787.2:c.783T>C (BEST1) | NP_001287716.1:p.Ala261= | |
| NM_001363591.2:c.645T>C (BEST1) | NP_001350520.1:p.Ala215= | |
| NM_001363593.2:c.-10T>C (BEST1) | NP_001350522.1:n.-10T>C | |
| NR_134580.2:n.1279T>C (BEST1) |