Linked Data
ClinVar Variation Id:
1043291
ClinVar RCV Id:
RCV001347379
dbSNP Id:
rs145212203
ExAC:
11:61727495 G / A
gnomAD v2:
11-61727495-G-A
gnomAD v3:
11-61960023-G-A
gnomAD v4:
11-61960023-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61960023G>A , CM000673.2:g.61960023G>A | GRCh38 |
| NC_000011.9:g.61727495G>A , CM000673.1:g.61727495G>A | GRCh37 |
| NC_000011.8:g.61484071G>A | NCBI36 |
| NG_009033.1:g.15140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.1080G>A (BEST1) MANE Select | ENSP00000367282.4:p.Met360Ile | |
| ENST00000378043.8:c.1080G>A (BEST1) | ENSP00000367282.4:p.Met360Ile | |
| ENST00000449131.6:c.900G>A (BEST1) | ENSP00000399709.2:p.Met300Ile | |
| ENST00000524877.5:n.2711G>A (BEST1) | ||
| ENST00000524926.5:c.1283G>A (BEST1) | ENSP00000432681.1:p.Trp428Ter | |
| ENST00000526988.1:c.965G>A (BEST1) | ENSP00000433195.1:p.Trp322Ter | |
| ENST00000529191.5:c.115-96C>T (FTH1) | ENSP00000431659.1:n.115-96C>T | |
| ENST00000529631.5:c.115-119C>T (FTH1) | ENSP00000431575.1:n.115-119C>T | |
| ENST00000530019.5:c.262-119C>T (FTH1) | ENSP00000433470.1:n.262-119C>T | |
| ENST00000534553.5:c.164-2232G>A (BEST1) | ENSP00000431189.1:n.164-2232G>A | |
| NM_001139443.1:c.900G>A (BEST1) | NP_001132915.1:p.Met300Ile | |
| NM_001300786.1:c.819G>A (BEST1) | NP_001287715.1:p.Met273Ile | |
| NM_001300787.1:c.900G>A (BEST1) | NP_001287716.1:p.Met300Ile | |
| NM_004183.3:c.1080G>A (BEST1) | NP_004174.1:p.Met360Ile | |
| XM_005274210.2:c.1080G>A (BEST1) | XP_005274267.1:p.Met360Ile | |
| XM_005274215.2:c.762G>A (BEST1) | XP_005274272.1:p.Met254Ile | |
| XM_005274216.2:c.1103G>A (BEST1) | XP_005274273.1:p.Trp368Ter | |
| XM_005274218.3:c.965G>A (BEST1) | XP_005274275.1:p.Trp322Ter | |
| XM_005274219.2:c.867+1725G>A (BEST1) | XP_005274276.1:n.867+1725G>A | |
| XM_005274221.2:c.715-2232G>A (BEST1) | XP_005274278.1:n.715-2232G>A | |
| XM_011545229.1:c.1080G>A (BEST1) | XP_011543531.1:p.Met360Ile | |
| XM_011545230.1:c.987G>A (BEST1) | XP_011543532.1:p.Met329Ile | |
| XM_011545231.1:c.762G>A (BEST1) | XP_011543533.1:p.Met254Ile | |
| XM_011545232.1:c.1283G>A (BEST1) | XP_011543534.1:p.Trp428Ter | |
| XM_011545233.1:c.237G>A (BEST1) | XP_011543535.1:p.Met79Ile | |
| NM_001363591.1:c.762G>A (BEST1) | NP_001350520.1:p.Met254Ile | |
| NM_001363592.1:c.1283G>A (BEST1) | NP_001350521.1:p.Trp428Ter | |
| NM_001363593.1:c.108G>A (BEST1) | NP_001350522.1:p.Met36Ile | |
| NR_134580.1:n.1863G>A (BEST1) | ||
| XM_005274210.4:c.1080G>A (BEST1) | XP_005274267.1:p.Met360Ile | |
| XM_005274215.4:c.762G>A (BEST1) | XP_005274272.1:p.Met254Ile | |
| XM_005274216.4:c.1103G>A (BEST1) | XP_005274273.1:p.Trp368Ter | |
| XM_005274219.4:c.867+1725G>A (BEST1) | XP_005274276.1:n.867+1725G>A | |
| XM_005274221.4:c.715-2232G>A (BEST1) | XP_005274278.1:n.715-2232G>A | |
| XM_011545229.3:c.1080G>A (BEST1) | XP_011543531.1:p.Met360Ile | |
| XM_011545230.3:c.987G>A (BEST1) | XP_011543532.1:p.Met329Ile | |
| XM_011545233.3:c.237G>A (BEST1) | XP_011543535.1:p.Met79Ile | |
| XM_017018230.2:c.965G>A (BEST1) | XP_016873719.1:p.Trp322Ter | |
| XR_001747952.2:n.1781G>A (BEST1) | ||
| XR_001747953.2:n.1557+1725G>A (BEST1) | ||
| XR_001747954.2:n.1405-2232G>A (BEST1) | ||
| NM_004183.4:c.1080G>A (BEST1) MANE Select | NP_004174.1:p.Met360Ile | |
| NM_001139443.2:c.900G>A (BEST1) | NP_001132915.1:p.Met300Ile | |
| NM_001300786.2:c.819G>A (BEST1) | NP_001287715.1:p.Met273Ile | |
| NM_001300787.2:c.900G>A (BEST1) | NP_001287716.1:p.Met300Ile | |
| NM_001363591.2:c.762G>A (BEST1) | NP_001350520.1:p.Met254Ile | |
| NM_001363593.2:c.108G>A (BEST1) | NP_001350522.1:p.Met36Ile | |
| NR_134580.2:n.1396G>A (BEST1) |