Linked Data
ClinVar Variation Id:
193666
ClinVar RCV Id:
RCV000173795
RCV000301873
RCV000392906
RCV000401921
RCV000365872
RCV001103498
RCV001553907
RCV001517785
RCV001553906
RCV003888617
dbSNP Id:
rs149698
ExAC:
11:61730036 G / A
gnomAD v2:
11-61730036-G-A
gnomAD v3:
11-61962564-G-A
gnomAD v4:
11-61962564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61962564G>A , CM000673.2:g.61962564G>A | GRCh38 |
| NC_000011.9:g.61730036G>A , CM000673.1:g.61730036G>A | GRCh37 |
| NC_000011.8:g.61486612G>A | NCBI36 |
| NG_008346.1:g.10097C>T | |
| NG_009033.1:g.17681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.1410G>A (BEST1) MANE Select | ENSP00000367282.4:p.Thr470= | |
| ENST00000378043.8:c.1410G>A (BEST1) | ENSP00000367282.4:p.Thr470= | |
| ENST00000449131.6:c.1230G>A (BEST1) | ENSP00000399709.2:p.Thr410= | |
| ENST00000524877.5:n.5252G>A (BEST1) | ||
| ENST00000524926.5:c.*305G>A (BEST1) | ENSP00000432681.1:n.*305G>A | |
| ENST00000529191.5:c.115-2637C>T (FTH1) | ENSP00000431659.1:n.115-2637C>T | |
| ENST00000529631.5:c.115-2660C>T (FTH1) | ENSP00000431575.1:n.115-2660C>T | |
| ENST00000530019.5:c.262-2660C>T (FTH1) | ENSP00000433470.1:n.262-2660C>T | |
| ENST00000534553.5:c.*305G>A (BEST1) | ENSP00000431189.1:n.*305G>A | |
| NM_001139443.1:c.1230G>A (BEST1) | NP_001132915.1:p.Thr410= | |
| NM_001300786.1:c.1149G>A (BEST1) | NP_001287715.1:p.Thr383= | |
| NM_001300787.1:c.1230G>A (BEST1) | NP_001287716.1:p.Thr410= | |
| NM_004183.3:c.1410G>A (BEST1) | NP_004174.1:p.Thr470= | |
| XM_005274210.2:c.1410G>A (BEST1) | XP_005274267.1:p.Thr470= | |
| XM_005274215.2:c.1092G>A (BEST1) | XP_005274272.1:p.Thr364= | |
| XM_005274216.2:c.*305G>A (BEST1) | XP_005274273.1:n.*305G>A | |
| XM_005274218.3:c.*305G>A (BEST1) | XP_005274275.1:n.*305G>A | |
| XM_005274219.2:c.*211G>A (BEST1) | XP_005274276.1:n.*211G>A | |
| XM_005274221.2:c.*211G>A (BEST1) | XP_005274278.1:n.*211G>A | |
| XM_011545229.1:c.1410G>A (BEST1) | XP_011543531.1:p.Thr470= | |
| XM_011545230.1:c.1317G>A (BEST1) | XP_011543532.1:p.Thr439= | |
| XM_011545231.1:c.1092G>A (BEST1) | XP_011543533.1:p.Thr364= | |
| XM_011545232.1:c.*305G>A (BEST1) | XP_011543534.1:n.*305G>A | |
| XM_011545233.1:c.567G>A (BEST1) | XP_011543535.1:p.Thr189= | |
| NM_001363591.1:c.1092G>A (BEST1) | NP_001350520.1:p.Thr364= | |
| NM_001363592.1:c.*305G>A (BEST1) | NP_001350521.1:n.*305G>A | |
| NM_001363593.1:c.438G>A (BEST1) | NP_001350522.1:p.Thr146= | |
| NR_134580.1:n.2193G>A (BEST1) | ||
| XM_005274210.4:c.1410G>A (BEST1) | XP_005274267.1:p.Thr470= | |
| XM_005274215.4:c.1092G>A (BEST1) | XP_005274272.1:p.Thr364= | |
| XM_005274216.4:c.*305G>A (BEST1) | XP_005274273.1:n.*305G>A | |
| XM_005274219.4:c.*211G>A (BEST1) | XP_005274276.1:n.*211G>A | |
| XM_005274221.4:c.*211G>A (BEST1) | XP_005274278.1:n.*211G>A | |
| XM_011545229.3:c.1410G>A (BEST1) | XP_011543531.1:p.Thr470= | |
| XM_011545230.3:c.1317G>A (BEST1) | XP_011543532.1:p.Thr439= | |
| XM_011545233.3:c.567G>A (BEST1) | XP_011543535.1:p.Thr189= | |
| XM_017018230.2:c.*305G>A (BEST1) | XP_016873719.1:n.*305G>A | |
| XR_001747952.2:n.2111G>A (BEST1) | ||
| XR_001747953.2:n.1867G>A (BEST1) | ||
| XR_001747954.2:n.1714G>A (BEST1) | ||
| NM_004183.4:c.1410G>A (BEST1) MANE Select | NP_004174.1:p.Thr470= | |
| NM_001139443.2:c.1230G>A (BEST1) | NP_001132915.1:p.Thr410= | |
| NM_001300786.2:c.1149G>A (BEST1) | NP_001287715.1:p.Thr383= | |
| NM_001300787.2:c.1230G>A (BEST1) | NP_001287716.1:p.Thr410= | |
| NM_001363591.2:c.1092G>A (BEST1) | NP_001350520.1:p.Thr364= | |
| NM_001363593.2:c.438G>A (BEST1) | NP_001350522.1:p.Thr146= | |
| NR_134580.2:n.1726G>A (BEST1) |