Linked Data
ClinVar Variation Id:
529735
dbSNP Id:
rs746330303
ExAC:
1:33478872 G / A
gnomAD v2:
1-33478872-G-A
gnomAD v3:
1-33013271-G-A
gnomAD v4:
1-33013271-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33013271G>A , CM000663.2:g.33013271G>A | GRCh38 |
| NC_000001.10:g.33478872G>A , CM000663.1:g.33478872G>A | GRCh37 |
| NC_000001.9:g.33251459G>A | NCBI36 |
| NG_016269.1:g.28621C>T , LRG_133:g.28621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.1782C>T | ||
| ENST00000491241.2:c.*619C>T | ENSP00000512049.1:n.*619C>T | |
| ENST00000550338.6:c.*619C>T | ENSP00000450008.1:n.*619C>T | |
| ENST00000695598.1:n.1769C>T | ||
| ENST00000695599.1:c.*5512C>T | ENSP00000512046.1:n.*5512C>T | |
| ENST00000695600.1:n.1944C>T | ||
| ENST00000695601.1:c.*619C>T | ENSP00000512047.1:n.*619C>T | |
| ENST00000695602.1:c.*619C>T | ENSP00000512048.1:n.*619C>T | |
| ENST00000695603.1:n.1782C>T | ||
| ENST00000695604.1:c.*436C>T | ENSP00000512050.1:n.*436C>T | |
| ENST00000354858.11:c.504C>T | ENSP00000346921.7:p.Ile168= | |
| ENST00000373449.7:c.630C>T | ENSP00000362548.2:p.Ile210= | |
| ENST00000672308.1:n.665C>T | ||
| ENST00000672715.1:c.630C>T MANE Select | ENSP00000499935.1:p.Ile210= | |
| ENST00000354858.10:c.630C>T | ENSP00000346921.6:p.Ile210= | |
| ENST00000373449.6:c.630C>T | ENSP00000362548.2:p.Ile210= | |
| ENST00000467905.5:c.630C>T | ENSP00000447082.1:p.Ile210= | |
| ENST00000480134.5:c.*133C>T | ENSP00000450109.1:n.*133C>T | |
| ENST00000491241.1:n.17C>T | ||
| ENST00000548033.5:c.504C>T | ENSP00000449003.1:p.Ile168= | |
| ENST00000550338.5:c.*619C>T | ENSP00000450008.1:n.*619C>T | |
| ENST00000629371.2:c.*133C>T | ENSP00000486507.1:n.*133C>T | |
| NM_001199199.1:c.606C>T | NP_001186128.1:p.Ile202= | |
| NM_001625.3:c.630C>T | NP_001616.1:p.Ile210= | |
| NM_013411.4:c.630C>T | NP_037543.1:p.Ile210= | |
| NR_037591.1:n.831C>T | ||
| NR_037592.1:n.831C>T | ||
| XM_011540967.1:c.*133C>T | XP_011539269.1:n.*133C>T | |
| XR_246248.1:n.670C>T | ||
| XR_946575.1:n.575C>T | ||
| NM_001319139.1:c.486C>T | NP_001306068.1:p.Ile162= | |
| NM_001319140.1:c.486C>T | NP_001306069.1:p.Ile162= | |
| NM_001319141.1:c.630C>T | NP_001306070.1:p.Ile210= | |
| NM_001319142.1:c.504C>T | NP_001306071.1:p.Ile168= | |
| NM_001319143.1:c.*133C>T | NP_001306072.1:n.*133C>T | |
| NR_134976.1:n.618C>T | ||
| XR_001737036.1:n.575C>T | ||
| XR_246248.2:n.670C>T | ||
| NM_001199199.2:c.606C>T | NP_001186128.1:p.Ile202= | |
| NM_001319139.2:c.486C>T | NP_001306068.1:p.Ile162= | |
| NM_001319141.2:c.630C>T | NP_001306070.1:p.Ile210= | |
| NM_001319142.2:c.504C>T | NP_001306071.1:p.Ile168= | |
| NM_001625.4:c.630C>T MANE Select | NP_001616.1:p.Ile210= | |
| NM_013411.5:c.630C>T | NP_037543.1:p.Ile210= | |
| NR_134976.2:n.590C>T | ||
| NM_001199199.3:c.606C>T | NP_001186128.1:p.Ile202= | |
| NM_001319139.3:c.486C>T | NP_001306068.1:p.Ile162= | |
| NM_001319140.2:c.486C>T | NP_001306069.1:p.Ile162= | |
| NM_001319141.3:c.630C>T | NP_001306070.1:p.Ile210= | |
| NM_001319142.3:c.504C>T | NP_001306071.1:p.Ile168= | |
| NM_001319143.2:c.*133C>T | NP_001306072.1:n.*133C>T | |
| NR_134976.3:n.590C>T |