Linked Data
ClinVar Variation Id:
193652
dbSNP Id:
rs200022583
ExAC:
1:235599714 A / T
gnomAD v2:
1-235599714-A-T
gnomAD v3:
1-235436399-A-T
gnomAD v4:
1-235436399-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235436399A>T , CM000663.2:g.235436399A>T | GRCh38 |
| NC_000001.10:g.235599714A>T , CM000663.1:g.235599714A>T | GRCh37 |
| NC_000001.9:g.233666337A>T | NCBI36 |
| NG_009230.1:g.73987A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.658A>T | ENSP00000355560.4:p.Ile220Phe | |
| ENST00000406207.5:c.847A>T | ENSP00000384571.1:p.Ile283Phe | |
| ENST00000472011.6:n.1478A>T | ||
| ENST00000543662.4:c.1000A>T | ENSP00000439170.1:p.Ile334Phe | |
| ENST00000642339.1:c.*544A>T | ENSP00000495425.1:n.*544A>T | |
| ENST00000642372.1:c.554A>T | ||
| ENST00000642431.1:c.1424A>T | ||
| ENST00000642463.1:c.*745A>T | ENSP00000495007.1:n.*745A>T | |
| ENST00000642503.1:c.*621A>T | ENSP00000494334.1:n.*621A>T | |
| ENST00000642610.2:c.847A>T MANE Select | ENSP00000494796.1:p.Ile283Phe | |
| ENST00000642764.1:n.1585A>T | ||
| ENST00000642981.1:n.236A>T | ||
| ENST00000643125.1:c.738-923A>T | ENSP00000494102.1:n.738-923A>T | |
| ENST00000643142.1:c.*338A>T | ENSP00000494755.1:n.*338A>T | |
| ENST00000643238.1:c.638-923A>T | ENSP00000495916.1:n.638-923A>T | |
| ENST00000643410.1:c.*137A>T | ENSP00000495030.1:n.*137A>T | |
| ENST00000643487.1:n.1534A>T | ||
| ENST00000643524.1:c.*432A>T | ENSP00000494026.1:n.*432A>T | |
| ENST00000643615.1:c.*847A>T | ENSP00000496103.1:n.*847A>T | |
| ENST00000643993.1:n.890A>T | ||
| ENST00000643994.1:c.*847A>T | ENSP00000496322.1:n.*847A>T | |
| ENST00000644037.1:c.*964A>T | ENSP00000496408.1:n.*964A>T | |
| ENST00000644055.1:c.*1472A>T | ENSP00000496307.1:n.*1472A>T | |
| ENST00000644126.1:n.2426A>T | ||
| ENST00000644217.1:c.847A>T | ENSP00000494646.1:p.Ile283Phe | |
| ENST00000644265.1:c.333-923A>T | ||
| ENST00000644578.1:c.661A>T | ENSP00000495953.1:p.Ile221Phe | |
| ENST00000644604.1:c.847A>T | ENSP00000495961.1:p.Ile283Phe | |
| ENST00000644680.1:c.*1368A>T | ENSP00000496173.1:n.*1368A>T | |
| ENST00000644838.1:c.*137A>T | ENSP00000495910.1:n.*137A>T | |
| ENST00000644910.1:c.1361A>T | ||
| ENST00000645205.1:c.847A>T | ENSP00000495823.1:p.Ile283Phe | |
| ENST00000645351.1:c.847A>T | ENSP00000494319.1:p.Ile283Phe | |
| ENST00000645551.1:c.*564A>T | ENSP00000495928.1:n.*564A>T | |
| ENST00000645578.1:c.*621A>T | ENSP00000496495.1:n.*621A>T | |
| ENST00000645582.1:c.*677A>T | ENSP00000494980.1:n.*677A>T | |
| ENST00000645655.1:c.847A>T | ENSP00000495202.1:p.Ile283Phe | |
| ENST00000645662.1:c.*423-923A>T | ENSP00000495964.1:n.*423-923A>T | |
| ENST00000645836.1:c.*621A>T | ENSP00000493915.1:n.*621A>T | |
| ENST00000645899.1:c.847A>T | ENSP00000496773.1:p.Ile283Phe | |
| ENST00000645964.1:c.*620A>T | ENSP00000494208.1:n.*620A>T | |
| ENST00000646104.1:c.*1222A>T | ENSP00000495475.1:n.*1222A>T | |
| ENST00000646186.1:c.*519A>T | ENSP00000493806.1:n.*519A>T | |
| ENST00000646281.1:c.847A>T | ENSP00000495225.1:p.Ile283Phe | |
| ENST00000646286.1:c.*740A>T | ENSP00000494291.1:n.*740A>T | |
| ENST00000646463.1:c.*519A>T | ENSP00000494541.1:n.*519A>T | |
| ENST00000646528.1:c.*1563A>T | ENSP00000496553.1:n.*1563A>T | |
| ENST00000646536.1:c.*137A>T | ENSP00000494801.1:n.*137A>T | |
| ENST00000646624.1:c.847A>T | ENSP00000494575.1:p.Ile283Phe | |
| ENST00000646821.1:c.*137A>T | ENSP00000495257.1:n.*137A>T | |
| ENST00000646842.1:n.408-923A>T | ||
| ENST00000646848.1:c.*62A>T | ENSP00000495831.1:n.*62A>T | |
| ENST00000647186.1:c.847A>T | ENSP00000494775.1:p.Ile283Phe | |
| ENST00000647233.1:n.1734A>T | ||
| ENST00000647322.1:c.555-923A>T | ||
| ENST00000647332.1:c.*332A>T | ENSP00000495024.1:n.*332A>T | |
| ENST00000647418.1:c.*621A>T | ENSP00000493552.1:n.*621A>T | |
| ENST00000647428.1:c.508A>T | ENSP00000495630.1:p.Ile170Phe | |
| ENST00000651186.1:c.508A>T | ENSP00000498645.1:p.Ile170Phe | |
| ENST00000366601.7:c.847A>T | ENSP00000355560.3:p.Ile283Phe | |
| ENST00000406207.4:c.847A>T | ENSP00000384571.1:p.Ile283Phe | |
| ENST00000472011.5:n.899A>T | ||
| ENST00000543662.3:c.1000A>T | ENSP00000439170.1:p.Ile334Phe | |
| NM_001079515.2:c.847A>T | NP_001072983.1:p.Ile283Phe | |
| NM_001287801.1:c.1000A>T | NP_001274730.1:p.Ile334Phe | |
| NM_001287802.1:c.508A>T | NP_001274731.1:p.Ile170Phe | |
| NM_003193.4:c.847A>T | NP_003184.1:p.Ile283Phe | |
| NM_003193.5:c.847A>T MANE Select | NP_003184.1:p.Ile283Phe | |
| NM_001079515.3:c.847A>T | NP_001072983.1:p.Ile283Phe | |
| NM_001287801.2:c.1000A>T | NP_001274730.1:p.Ile334Phe | |
| NM_001287802.2:c.508A>T | NP_001274731.1:p.Ile170Phe |