Linked Data
ClinVar Variation Id:
2742
ClinVar RCV Id:
RCV000002865
dbSNP Id:
rs121918287
gnomAD v4:
11-61959892-G-A
PubMed:
PMID:18179881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959892G>A , CM000673.2:g.61959892G>A | GRCh38 |
| NC_000011.9:g.61727364G>A , CM000673.1:g.61727364G>A | GRCh37 |
| NC_000011.8:g.61483940G>A | NCBI36 |
| NG_009033.1:g.15009G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.949G>A (BEST1) MANE Select | ENSP00000367282.4:p.Val317Met | |
| ENST00000378043.8:c.949G>A (BEST1) | ENSP00000367282.4:p.Val317Met | |
| ENST00000449131.6:c.769G>A (BEST1) | ENSP00000399709.2:p.Val257Met | |
| ENST00000524877.5:n.2580G>A (BEST1) | ||
| ENST00000524926.5:c.1152G>A (BEST1) | ENSP00000432681.1:p.Arg384= | |
| ENST00000526988.1:c.834G>A (BEST1) | ENSP00000433195.1:p.Arg278= | |
| ENST00000529191.5:c.150C>T (FTH1) | ENSP00000431659.1:p.His50= | |
| ENST00000529631.5:c.127C>T (FTH1) | ENSP00000431575.1:p.Pro43Ser | |
| ENST00000530019.5:c.274C>T (FTH1) | ENSP00000433470.1:p.Pro92Ser | |
| ENST00000534553.5:c.164-2363G>A (BEST1) | ENSP00000431189.1:n.164-2363G>A | |
| NM_001139443.1:c.769G>A (BEST1) | NP_001132915.1:p.Val257Met | |
| NM_001300786.1:c.688G>A (BEST1) | NP_001287715.1:p.Val230Met | |
| NM_001300787.1:c.769G>A (BEST1) | NP_001287716.1:p.Val257Met | |
| NM_004183.3:c.949G>A (BEST1) | NP_004174.1:p.Val317Met | |
| XM_005274210.2:c.949G>A (BEST1) | XP_005274267.1:p.Val317Met | |
| XM_005274215.2:c.631G>A (BEST1) | XP_005274272.1:p.Val211Met | |
| XM_005274216.2:c.972G>A (BEST1) | XP_005274273.1:p.Arg324= | |
| XM_005274218.3:c.834G>A (BEST1) | XP_005274275.1:p.Arg278= | |
| XM_005274219.2:c.867+1594G>A (BEST1) | XP_005274276.1:n.867+1594G>A | |
| XM_005274221.2:c.715-2363G>A (BEST1) | XP_005274278.1:n.715-2363G>A | |
| XM_011545229.1:c.949G>A (BEST1) | XP_011543531.1:p.Val317Met | |
| XM_011545230.1:c.856G>A (BEST1) | XP_011543532.1:p.Val286Met | |
| XM_011545231.1:c.631G>A (BEST1) | XP_011543533.1:p.Val211Met | |
| XM_011545232.1:c.1152G>A (BEST1) | XP_011543534.1:p.Arg384= | |
| XM_011545233.1:c.106G>A (BEST1) | XP_011543535.1:p.Val36Met | |
| NM_001363591.1:c.631G>A (BEST1) | NP_001350520.1:p.Val211Met | |
| NM_001363592.1:c.1152G>A (BEST1) | NP_001350521.1:p.Arg384= | |
| NM_001363593.1:c.-24G>A (BEST1) | NP_001350522.1:n.-24G>A | |
| NR_134580.1:n.1732G>A (BEST1) | ||
| XM_005274210.4:c.949G>A (BEST1) | XP_005274267.1:p.Val317Met | |
| XM_005274215.4:c.631G>A (BEST1) | XP_005274272.1:p.Val211Met | |
| XM_005274216.4:c.972G>A (BEST1) | XP_005274273.1:p.Arg324= | |
| XM_005274219.4:c.867+1594G>A (BEST1) | XP_005274276.1:n.867+1594G>A | |
| XM_005274221.4:c.715-2363G>A (BEST1) | XP_005274278.1:n.715-2363G>A | |
| XM_011545229.3:c.949G>A (BEST1) | XP_011543531.1:p.Val317Met | |
| XM_011545230.3:c.856G>A (BEST1) | XP_011543532.1:p.Val286Met | |
| XM_011545233.3:c.106G>A (BEST1) | XP_011543535.1:p.Val36Met | |
| XM_017018230.2:c.834G>A (BEST1) | XP_016873719.1:p.Arg278= | |
| XR_001747952.2:n.1650G>A (BEST1) | ||
| XR_001747953.2:n.1557+1594G>A (BEST1) | ||
| XR_001747954.2:n.1405-2363G>A (BEST1) | ||
| XR_001748245.1:n.36C>T | ||
| XR_002957249.1:n.36C>T | ||
| NM_004183.4:c.949G>A (BEST1) MANE Select | NP_004174.1:p.Val317Met | |
| NM_001139443.2:c.769G>A (BEST1) | NP_001132915.1:p.Val257Met | |
| NM_001300786.2:c.688G>A (BEST1) | NP_001287715.1:p.Val230Met | |
| NM_001300787.2:c.769G>A (BEST1) | NP_001287716.1:p.Val257Met | |
| NM_001363591.2:c.631G>A (BEST1) | NP_001350520.1:p.Val211Met | |
| NM_001363593.2:c.-24G>A (BEST1) | NP_001350522.1:n.-24G>A | |
| NR_134580.2:n.1265G>A (BEST1) |