Linked Data
ClinVar Variation Id:
591993
ClinVar RCV Id:
RCV000723176
dbSNP Id:
rs1339819940
gnomAD v4:
5-119478956-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478956A>T , CM000667.2:g.119478956A>T | GRCh38 |
| NC_000005.9:g.118814651A>T , CM000667.1:g.118814651A>T | GRCh37 |
| NC_000005.8:g.118842550A>T | NCBI36 |
| NG_008182.1:g.31504A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.557A>T | ENSP00000426272.2:p.Asn186Ile | |
| ENST00000518349.6:c.113-17587A>T | ENSP00000507185.1:n.113-17587A>T | |
| ENST00000682445.1:c.*438A>T | ENSP00000508061.1:n.*438A>T | |
| ENST00000682531.1:n.658A>T | ||
| ENST00000682626.1:c.*63A>T | ENSP00000507857.1:n.*63A>T | |
| ENST00000682996.1:c.557A>T | ENSP00000507792.1:p.Asn186Ile | |
| ENST00000683265.1:n.650A>T | ||
| ENST00000683371.1:c.*687A>T | ENSP00000508376.1:n.*687A>T | |
| ENST00000683390.1:n.2247A>T | ||
| ENST00000683549.1:n.478A>T | ||
| ENST00000683936.1:c.*442A>T | ENSP00000507721.1:n.*442A>T | |
| ENST00000683974.1:n.639A>T | ||
| ENST00000683996.1:c.146A>T | ENSP00000507060.1:p.Asn49Ile | |
| ENST00000684131.1:n.396A>T | ||
| ENST00000684160.1:c.*247A>T | ENSP00000507821.1:n.*247A>T | |
| ENST00000684214.1:c.557A>T | ENSP00000508071.1:p.Asn186Ile | |
| ENST00000414835.7:c.632A>T | ENSP00000411960.3:p.Asn211Ile | |
| ENST00000510025.7:c.557A>T MANE Select | ENSP00000424940.3:p.Asn186Ile | |
| ENST00000643250.1:c.*429A>T | ENSP00000494737.1:n.*429A>T | |
| ENST00000644146.1:c.*135A>T | ENSP00000494808.1:n.*135A>T | |
| ENST00000645099.1:c.116A>T | ENSP00000496091.1:p.Asn39Ile | |
| ENST00000645702.1:c.146A>T | ENSP00000496432.1:p.Asn49Ile | |
| ENST00000645832.1:c.*442A>T | ENSP00000494316.1:n.*442A>T | |
| ENST00000646058.1:c.557A>T | ENSP00000493579.1:p.Asn186Ile | |
| ENST00000646355.1:c.*563A>T | ENSP00000493801.1:n.*563A>T | |
| ENST00000646554.1:c.*535A>T | ENSP00000494542.1:n.*535A>T | |
| ENST00000647335.1:c.*524A>T | ENSP00000495180.1:n.*524A>T | |
| ENST00000647342.1:c.*488A>T | ENSP00000494992.1:n.*488A>T | |
| ENST00000256216.10:c.557A>T | ENSP00000256216.6:p.Asn186Ile | |
| ENST00000414835.6:c.137A>T | ENSP00000411960.2:p.Asn46Ile | |
| ENST00000442060.7:c.557A>T | ENSP00000390208.3:p.Asn186Ile | |
| ENST00000503168.5:n.546A>T | ||
| ENST00000504811.5:c.632A>T | ENSP00000420914.1:p.Asn211Ile | |
| ENST00000505181.5:n.260A>T | ||
| ENST00000509514.5:c.-328A>T | ENSP00000426272.1:n.-328A>T | |
| ENST00000510025.5:c.485A>T | ENSP00000424940.1:p.Asn162Ile | |
| ENST00000512644.1:n.125A>T | ||
| ENST00000513628.5:c.146A>T | ENSP00000425993.1:p.Asn49Ile | |
| ENST00000515235.6:n.617A>T | ||
| ENST00000515320.5:c.503A>T | ENSP00000424613.1:p.Asn168Ile | |
| NM_000414.3:c.557A>T | NP_000405.1:p.Asn186Ile | |
| NM_001199291.2:c.632A>T | NP_001186220.1:p.Asn211Ile | |
| NM_001199292.1:c.503A>T | NP_001186221.1:p.Asn168Ile | |
| NM_001292027.1:c.485A>T | NP_001278956.1:p.Asn162Ile | |
| NM_001292028.1:c.137A>T | NP_001278957.1:p.Asn46Ile | |
| NM_000414.4:c.557A>T MANE Select | NP_000405.1:p.Asn186Ile | |
| NM_001199291.3:c.632A>T | NP_001186220.1:p.Asn211Ile | |
| NM_001199292.2:c.503A>T | NP_001186221.1:p.Asn168Ile | |
| NM_001292027.2:c.485A>T | NP_001278956.1:p.Asn162Ile | |
| NM_001292028.2:c.137A>T | NP_001278957.1:p.Asn46Ile | |
| NM_001374497.1:c.548A>T | NP_001361426.1:p.Asn183Ile | |
| NM_001374498.1:c.557A>T | NP_001361427.1:p.Asn186Ile | |
| NM_001374499.1:c.230A>T | NP_001361428.1:p.Asn77Ile | |
| NM_001374500.1:c.116A>T | NP_001361429.1:p.Asn39Ile | |
| NM_001374501.1:c.146A>T | NP_001361430.1:p.Asn49Ile | |
| NM_001374502.1:c.146A>T | NP_001361431.1:p.Asn49Ile | |
| NM_001374503.1:c.146A>T | NP_001361432.1:p.Asn49Ile | |
| NR_164653.1:n.636A>T | ||
| NR_164654.1:n.824A>T |