Linked Data
ClinVar Variation Id:
522530
ClinVar RCV Id:
RCV000625673
dbSNP Id:
rs1554963305
COSMIC:
COSM467106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959899T>C , CM000673.2:g.61959899T>C | GRCh38 |
| NC_000011.9:g.61727371T>C , CM000673.1:g.61727371T>C | GRCh37 |
| NC_000011.8:g.61483947T>C | NCBI36 |
| NG_009033.1:g.15016T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.956T>C (BEST1) MANE Select | ENSP00000367282.4:p.Leu319Pro | |
| ENST00000378043.8:c.956T>C (BEST1) | ENSP00000367282.4:p.Leu319Pro | |
| ENST00000449131.6:c.776T>C (BEST1) | ENSP00000399709.2:p.Leu259Pro | |
| ENST00000524877.5:n.2587T>C (BEST1) | ||
| ENST00000524926.5:c.1159T>C (BEST1) | ENSP00000432681.1:p.Cys387Arg | |
| ENST00000526988.1:c.841T>C (BEST1) | ENSP00000433195.1:p.Cys281Arg | |
| ENST00000529191.5:c.143A>G (FTH1) | ENSP00000431659.1:p.Gln48Arg | |
| ENST00000529631.5:c.120A>G (FTH1) | ENSP00000431575.1:p.Thr40= | |
| ENST00000530019.5:c.267A>G (FTH1) | ENSP00000433470.1:p.Thr89= | |
| ENST00000534553.5:c.164-2356T>C (BEST1) | ENSP00000431189.1:n.164-2356T>C | |
| NM_001139443.1:c.776T>C (BEST1) | NP_001132915.1:p.Leu259Pro | |
| NM_001300786.1:c.695T>C (BEST1) | NP_001287715.1:p.Leu232Pro | |
| NM_001300787.1:c.776T>C (BEST1) | NP_001287716.1:p.Leu259Pro | |
| NM_004183.3:c.956T>C (BEST1) | NP_004174.1:p.Leu319Pro | |
| XM_005274210.2:c.956T>C (BEST1) | XP_005274267.1:p.Leu319Pro | |
| XM_005274215.2:c.638T>C (BEST1) | XP_005274272.1:p.Leu213Pro | |
| XM_005274216.2:c.979T>C (BEST1) | XP_005274273.1:p.Cys327Arg | |
| XM_005274218.3:c.841T>C (BEST1) | XP_005274275.1:p.Cys281Arg | |
| XM_005274219.2:c.867+1601T>C (BEST1) | XP_005274276.1:n.867+1601T>C | |
| XM_005274221.2:c.715-2356T>C (BEST1) | XP_005274278.1:n.715-2356T>C | |
| XM_011545229.1:c.956T>C (BEST1) | XP_011543531.1:p.Leu319Pro | |
| XM_011545230.1:c.863T>C (BEST1) | XP_011543532.1:p.Leu288Pro | |
| XM_011545231.1:c.638T>C (BEST1) | XP_011543533.1:p.Leu213Pro | |
| XM_011545232.1:c.1159T>C (BEST1) | XP_011543534.1:p.Cys387Arg | |
| XM_011545233.1:c.113T>C (BEST1) | XP_011543535.1:p.Leu38Pro | |
| NM_001363591.1:c.638T>C (BEST1) | NP_001350520.1:p.Leu213Pro | |
| NM_001363592.1:c.1159T>C (BEST1) | NP_001350521.1:p.Cys387Arg | |
| NM_001363593.1:c.-17T>C (BEST1) | NP_001350522.1:n.-17T>C | |
| NR_134580.1:n.1739T>C (BEST1) | ||
| XM_005274210.4:c.956T>C (BEST1) | XP_005274267.1:p.Leu319Pro | |
| XM_005274215.4:c.638T>C (BEST1) | XP_005274272.1:p.Leu213Pro | |
| XM_005274216.4:c.979T>C (BEST1) | XP_005274273.1:p.Cys327Arg | |
| XM_005274219.4:c.867+1601T>C (BEST1) | XP_005274276.1:n.867+1601T>C | |
| XM_005274221.4:c.715-2356T>C (BEST1) | XP_005274278.1:n.715-2356T>C | |
| XM_011545229.3:c.956T>C (BEST1) | XP_011543531.1:p.Leu319Pro | |
| XM_011545230.3:c.863T>C (BEST1) | XP_011543532.1:p.Leu288Pro | |
| XM_011545233.3:c.113T>C (BEST1) | XP_011543535.1:p.Leu38Pro | |
| XM_017018230.2:c.841T>C (BEST1) | XP_016873719.1:p.Cys281Arg | |
| XR_001747952.2:n.1657T>C (BEST1) | ||
| XR_001747953.2:n.1557+1601T>C (BEST1) | ||
| XR_001747954.2:n.1405-2356T>C (BEST1) | ||
| XR_001748245.1:n.29A>G | ||
| XR_002957249.1:n.29A>G | ||
| NM_004183.4:c.956T>C (BEST1) MANE Select | NP_004174.1:p.Leu319Pro | |
| NM_001139443.2:c.776T>C (BEST1) | NP_001132915.1:p.Leu259Pro | |
| NM_001300786.2:c.695T>C (BEST1) | NP_001287715.1:p.Leu232Pro | |
| NM_001300787.2:c.776T>C (BEST1) | NP_001287716.1:p.Leu259Pro | |
| NM_001363591.2:c.638T>C (BEST1) | NP_001350520.1:p.Leu213Pro | |
| NM_001363593.2:c.-17T>C (BEST1) | NP_001350522.1:n.-17T>C | |
| NR_134580.2:n.1272T>C (BEST1) |