Linked Data
dbSNP Id:
rs1748848405
gnomAD v3:
5-119478864-A-C
gnomAD v4:
5-119478864-A-C
MyVariant Identifiers:
chr5:g.118814559A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478864A>C , CM000667.2:g.119478864A>C | GRCh38 |
| NC_000005.9:g.118814559A>C , CM000667.1:g.118814559A>C | GRCh37 |
| NC_000005.8:g.118842458A>C | NCBI36 |
| NG_008182.1:g.31412A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.465A>C | ENSP00000426272.2:p.Ile155= | |
| ENST00000518349.6:c.113-17679A>C | ENSP00000507185.1:n.113-17679A>C | |
| ENST00000682445.1:c.*346A>C | ENSP00000508061.1:n.*346A>C | |
| ENST00000682531.1:n.566A>C | ||
| ENST00000682626.1:c.493A>C | ENSP00000507857.1:p.Ile165Leu | |
| ENST00000682996.1:c.465A>C | ENSP00000507792.1:p.Ile155= | |
| ENST00000683265.1:n.558A>C | ||
| ENST00000683371.1:c.*595A>C | ENSP00000508376.1:n.*595A>C | |
| ENST00000683390.1:n.2155A>C | ||
| ENST00000683549.1:n.386A>C | ||
| ENST00000683936.1:c.*350A>C | ENSP00000507721.1:n.*350A>C | |
| ENST00000683974.1:n.547A>C | ||
| ENST00000683996.1:c.54A>C | ENSP00000507060.1:p.Ile18= | |
| ENST00000684131.1:n.304A>C | ||
| ENST00000684160.1:c.*155A>C | ENSP00000507821.1:n.*155A>C | |
| ENST00000684214.1:c.465A>C | ENSP00000508071.1:p.Ile155= | |
| ENST00000414835.7:c.540A>C | ENSP00000411960.3:p.Ile180= | |
| ENST00000510025.7:c.465A>C MANE Select | ENSP00000424940.3:p.Ile155= | |
| ENST00000643250.1:c.*337A>C | ENSP00000494737.1:n.*337A>C | |
| ENST00000644146.1:c.*43A>C | ENSP00000494808.1:n.*43A>C | |
| ENST00000645099.1:c.24A>C | ENSP00000496091.1:p.Ile8= | |
| ENST00000645702.1:c.54A>C | ENSP00000496432.1:p.Ile18= | |
| ENST00000645832.1:c.*350A>C | ENSP00000494316.1:n.*350A>C | |
| ENST00000646058.1:c.465A>C | ENSP00000493579.1:p.Ile155= | |
| ENST00000646355.1:c.*471A>C | ENSP00000493801.1:n.*471A>C | |
| ENST00000646554.1:c.*443A>C | ENSP00000494542.1:n.*443A>C | |
| ENST00000646590.1:c.456A>C | ENSP00000494892.1:p.Ile152= | |
| ENST00000647335.1:c.*432A>C | ENSP00000495180.1:n.*432A>C | |
| ENST00000647342.1:c.*396A>C | ENSP00000494992.1:n.*396A>C | |
| ENST00000256216.10:c.465A>C | ENSP00000256216.6:p.Ile155= | |
| ENST00000414835.6:c.45A>C | ENSP00000411960.2:p.Ile15= | |
| ENST00000442060.7:c.465A>C | ENSP00000390208.3:p.Ile155= | |
| ENST00000503168.5:n.454A>C | ||
| ENST00000504811.5:c.540A>C | ENSP00000420914.1:p.Ile180= | |
| ENST00000505181.5:n.168A>C | ||
| ENST00000508788.5:n.367A>C | ||
| ENST00000509514.5:c.-420A>C | ENSP00000426272.1:n.-420A>C | |
| ENST00000510025.5:c.393A>C | ENSP00000424940.1:p.Ile131= | |
| ENST00000512644.1:n.33A>C | ||
| ENST00000512841.5:n.513A>C | ||
| ENST00000513628.5:c.54A>C | ENSP00000425993.1:p.Ile18= | |
| ENST00000515235.6:n.525A>C | ||
| ENST00000515320.5:c.411A>C | ENSP00000424613.1:p.Ile137= | |
| NM_000414.3:c.465A>C | NP_000405.1:p.Ile155= | |
| NM_001199291.2:c.540A>C | NP_001186220.1:p.Ile180= | |
| NM_001199292.1:c.411A>C | NP_001186221.1:p.Ile137= | |
| NM_001292027.1:c.393A>C | NP_001278956.1:p.Ile131= | |
| NM_001292028.1:c.45A>C | NP_001278957.1:p.Ile15= | |
| NM_000414.4:c.465A>C MANE Select | NP_000405.1:p.Ile155= | |
| NM_001199291.3:c.540A>C | NP_001186220.1:p.Ile180= | |
| NM_001199292.2:c.411A>C | NP_001186221.1:p.Ile137= | |
| NM_001292027.2:c.393A>C | NP_001278956.1:p.Ile131= | |
| NM_001292028.2:c.45A>C | NP_001278957.1:p.Ile15= | |
| NM_001374497.1:c.456A>C | NP_001361426.1:p.Ile152= | |
| NM_001374498.1:c.465A>C | NP_001361427.1:p.Ile155= | |
| NM_001374499.1:c.138A>C | NP_001361428.1:p.Ile46= | |
| NM_001374500.1:c.24A>C | NP_001361429.1:p.Ile8= | |
| NM_001374501.1:c.54A>C | NP_001361430.1:p.Ile18= | |
| NM_001374502.1:c.54A>C | NP_001361431.1:p.Ile18= | |
| NM_001374503.1:c.54A>C | NP_001361432.1:p.Ile18= | |
| NR_164653.1:n.544A>C | ||
| NR_164654.1:n.732A>C |