Linked Data
dbSNP Id:
rs766330442
ExAC:
5:118814664 C / G
gnomAD v2:
5-118814664-C-G
gnomAD v4:
5-119478969-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478969C>G , CM000667.2:g.119478969C>G | GRCh38 |
| NC_000005.9:g.118814664C>G , CM000667.1:g.118814664C>G | GRCh37 |
| NC_000005.8:g.118842563C>G | NCBI36 |
| NG_008182.1:g.31517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.570C>G | ENSP00000426272.2:p.Asn190Lys | |
| ENST00000518349.6:c.113-17574C>G | ENSP00000507185.1:n.113-17574C>G | |
| ENST00000682445.1:c.*451C>G | ENSP00000508061.1:n.*451C>G | |
| ENST00000682531.1:n.671C>G | ||
| ENST00000682626.1:c.*76C>G | ENSP00000507857.1:n.*76C>G | |
| ENST00000682996.1:c.570C>G | ENSP00000507792.1:p.Asn190Lys | |
| ENST00000683265.1:n.663C>G | ||
| ENST00000683371.1:c.*700C>G | ENSP00000508376.1:n.*700C>G | |
| ENST00000683390.1:n.2260C>G | ||
| ENST00000683549.1:n.491C>G | ||
| ENST00000683936.1:c.*455C>G | ENSP00000507721.1:n.*455C>G | |
| ENST00000683974.1:n.652C>G | ||
| ENST00000683996.1:c.159C>G | ENSP00000507060.1:p.Asn53Lys | |
| ENST00000684131.1:n.409C>G | ||
| ENST00000684160.1:c.*260C>G | ENSP00000507821.1:n.*260C>G | |
| ENST00000684214.1:c.570C>G | ENSP00000508071.1:p.Asn190Lys | |
| ENST00000414835.7:c.645C>G | ENSP00000411960.3:p.Asn215Lys | |
| ENST00000510025.7:c.570C>G MANE Select | ENSP00000424940.3:p.Asn190Lys | |
| ENST00000643250.1:c.*442C>G | ENSP00000494737.1:n.*442C>G | |
| ENST00000644146.1:c.*148C>G | ENSP00000494808.1:n.*148C>G | |
| ENST00000645099.1:c.129C>G | ENSP00000496091.1:p.Asn43Lys | |
| ENST00000645702.1:c.159C>G | ENSP00000496432.1:p.Asn53Lys | |
| ENST00000645832.1:c.*455C>G | ENSP00000494316.1:n.*455C>G | |
| ENST00000646058.1:c.570C>G | ENSP00000493579.1:p.Asn190Lys | |
| ENST00000646355.1:c.*576C>G | ENSP00000493801.1:n.*576C>G | |
| ENST00000646554.1:c.*548C>G | ENSP00000494542.1:n.*548C>G | |
| ENST00000647335.1:c.*537C>G | ENSP00000495180.1:n.*537C>G | |
| ENST00000647342.1:c.*501C>G | ENSP00000494992.1:n.*501C>G | |
| ENST00000256216.10:c.570C>G | ENSP00000256216.6:p.Asn190Lys | |
| ENST00000414835.6:c.150C>G | ENSP00000411960.2:p.Asn50Lys | |
| ENST00000442060.7:c.570C>G | ENSP00000390208.3:p.Asn190Lys | |
| ENST00000503168.5:n.559C>G | ||
| ENST00000504811.5:c.645C>G | ENSP00000420914.1:p.Asn215Lys | |
| ENST00000505181.5:n.273C>G | ||
| ENST00000509514.5:c.-315C>G | ENSP00000426272.1:n.-315C>G | |
| ENST00000510025.5:c.498C>G | ENSP00000424940.1:p.Asn166Lys | |
| ENST00000512644.1:n.138C>G | ||
| ENST00000513628.5:c.159C>G | ENSP00000425993.1:p.Asn53Lys | |
| ENST00000515235.6:n.630C>G | ||
| ENST00000515320.5:c.516C>G | ENSP00000424613.1:p.Asn172Lys | |
| NM_000414.3:c.570C>G | NP_000405.1:p.Asn190Lys | |
| NM_001199291.2:c.645C>G | NP_001186220.1:p.Asn215Lys | |
| NM_001199292.1:c.516C>G | NP_001186221.1:p.Asn172Lys | |
| NM_001292027.1:c.498C>G | NP_001278956.1:p.Asn166Lys | |
| NM_001292028.1:c.150C>G | NP_001278957.1:p.Asn50Lys | |
| NM_000414.4:c.570C>G MANE Select | NP_000405.1:p.Asn190Lys | |
| NM_001199291.3:c.645C>G | NP_001186220.1:p.Asn215Lys | |
| NM_001199292.2:c.516C>G | NP_001186221.1:p.Asn172Lys | |
| NM_001292027.2:c.498C>G | NP_001278956.1:p.Asn166Lys | |
| NM_001292028.2:c.150C>G | NP_001278957.1:p.Asn50Lys | |
| NM_001374497.1:c.561C>G | NP_001361426.1:p.Asn187Lys | |
| NM_001374498.1:c.570C>G | NP_001361427.1:p.Asn190Lys | |
| NM_001374499.1:c.243C>G | NP_001361428.1:p.Asn81Lys | |
| NM_001374500.1:c.129C>G | NP_001361429.1:p.Asn43Lys | |
| NM_001374501.1:c.159C>G | NP_001361430.1:p.Asn53Lys | |
| NM_001374502.1:c.159C>G | NP_001361431.1:p.Asn53Lys | |
| NM_001374503.1:c.159C>G | NP_001361432.1:p.Asn53Lys | |
| NR_164653.1:n.649C>G | ||
| NR_164654.1:n.837C>G |