Linked Data
ClinVar Variation Id:
2198317
dbSNP Id:
rs779008890
ExAC:
3:49459611 G / A
gnomAD v2:
3-49459611-G-A
gnomAD v3:
3-49422178-G-A
gnomAD v4:
3-49422178-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422178G>A , CM000665.2:g.49422178G>A | GRCh38 |
| NC_000003.11:g.49459611G>A , CM000665.1:g.49459611G>A | GRCh37 |
| NC_000003.10:g.49434615G>A | NCBI36 |
| NG_015986.1:g.5501C>T , LRG_537:g.5501C>T | |
| NG_033046.1:g.12147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.184C>T MANE Select | ENSP00000273588.3:p.Arg62Trp | |
| ENST00000395338.7:c.184C>T | ENSP00000378747.2:p.Arg62Trp | |
| ENST00000399379.7:c.60+183C>T | ENSP00000399943.2:n.60+183C>T | |
| ENST00000427987.6:c.40C>T | ENSP00000403821.2:p.Arg14Trp | |
| ENST00000430521.2:c.91-129C>T | ENSP00000388068.2:n.91-129C>T | |
| ENST00000462048.2:c.-101-129C>T | ENSP00000490465.1:n.-101-129C>T | |
| ENST00000465925.6:n.203C>T | ||
| ENST00000473163.2:n.286C>T | ||
| ENST00000476127.6:n.61C>T | ||
| ENST00000476226.6:n.183C>T | ||
| ENST00000478594.6:n.189C>T | ||
| ENST00000480957.6:n.202C>T | ||
| ENST00000485108.6:n.314C>T | ||
| ENST00000487589.6:n.97C>T | ||
| ENST00000491800.3:n.295C>T | ||
| ENST00000493046.6:n.281C>T | ||
| ENST00000538581.6:c.40C>T | ENSP00000443200.2:p.Arg14Trp | |
| ENST00000635772.1:n.188C>T | ||
| ENST00000635808.1:c.184C>T | ENSP00000489620.1:p.Arg62Trp | |
| ENST00000635889.1:n.193C>T | ||
| ENST00000635936.1:n.176C>T | ||
| ENST00000636023.1:c.184C>T | ENSP00000489969.1:p.Arg62Trp | |
| ENST00000636070.1:c.91-129C>T | ENSP00000490160.1:n.91-129C>T | |
| ENST00000636148.1:n.254C>T | ||
| ENST00000636166.1:c.496-606C>T | ENSP00000490106.1:n.496-606C>T | |
| ENST00000636199.1:c.184C>T | ENSP00000490871.1:p.Arg62Trp | |
| ENST00000636204.1:n.1466C>T | ||
| ENST00000636461.1:c.3296C>T | ||
| ENST00000636522.1:c.90+183C>T | ENSP00000489758.1:n.90+183C>T | |
| ENST00000636587.1:n.416C>T | ||
| ENST00000636597.1:c.184C>T | ENSP00000490251.1:p.Arg62Trp | |
| ENST00000636725.1:n.174C>T | ||
| ENST00000636803.1:n.174C>T | ||
| ENST00000636865.1:c.40C>T | ENSP00000490601.1:p.Arg14Trp | |
| ENST00000636871.1:n.127C>T | ||
| ENST00000636978.1:n.188C>T | ||
| ENST00000636991.1:n.207C>T | ||
| ENST00000637088.1:n.3739C>T | ||
| ENST00000637114.1:n.176C>T | ||
| ENST00000637268.1:n.189C>T | ||
| ENST00000637291.1:n.192C>T | ||
| ENST00000637442.1:n.1679C>T | ||
| ENST00000637457.1:n.211C>T | ||
| ENST00000637682.1:c.184C>T | ENSP00000489856.1:p.Arg62Trp | |
| ENST00000637684.1:n.286C>T | ||
| ENST00000637821.1:c.91-129C>T | ENSP00000490482.1:n.91-129C>T | |
| ENST00000637914.1:n.203C>T | ||
| ENST00000637982.1:n.176C>T | ||
| ENST00000637994.1:n.194C>T | ||
| ENST00000638014.1:c.2965C>T | ||
| ENST00000638063.1:c.184C>T | ENSP00000489760.1:p.Arg62Trp | |
| ENST00000638079.1:c.*700C>T | ENSP00000490120.1:n.*700C>T | |
| ENST00000638092.1:n.174C>T | ||
| ENST00000638115.1:c.*1945C>T | ENSP00000490296.1:n.*1945C>T | |
| ENST00000273588.7:c.184C>T | ENSP00000273588.3:p.Arg62Trp | |
| ENST00000395338.6:c.184C>T | ENSP00000378747.2:p.Arg62Trp | |
| ENST00000399379.6:c.91-129C>T | ENSP00000399943.1:n.91-129C>T | |
| ENST00000427987.5:c.176C>T | ||
| ENST00000430521.1:c.90+183C>T | ENSP00000388068.1:n.90+183C>T | |
| ENST00000458307.6:c.184C>T | ENSP00000415619.2:p.Arg62Trp | |
| ENST00000462048.1:n.248-129C>T | ||
| ENST00000476226.5:n.249C>T | ||
| ENST00000478594.5:n.178C>T | ||
| ENST00000480957.5:n.192C>T | ||
| ENST00000485108.5:n.178C>T | ||
| ENST00000487589.5:n.286C>T | ||
| ENST00000493046.5:n.92-129C>T | ||
| ENST00000495436.5:n.274C>T | ||
| ENST00000498571.1:n.182C>T | ||
| ENST00000538581.5:c.90+183C>T | ENSP00000443200.1:n.90+183C>T | |
| NM_000481.3:c.184C>T , LRG_537t1:c.184C>T | NP_000472.2:p.Arg62Trp | |
| NM_001164710.1:c.184C>T | NP_001158182.1:p.Arg62Trp | |
| NM_001164711.1:c.90+183C>T | NP_001158183.1:n.90+183C>T | |
| NM_001164712.1:c.184C>T | NP_001158184.1:p.Arg62Trp | |
| NR_028435.1:n.398C>T | ||
| NM_000481.4:c.184C>T MANE Select | NP_000472.2:p.Arg62Trp | |
| NM_001164710.2:c.184C>T | NP_001158182.1:p.Arg62Trp | |
| NM_001164711.2:c.90+183C>T | NP_001158183.1:n.90+183C>T | |
| NM_001164712.2:c.184C>T | NP_001158184.1:p.Arg62Trp | |
| NR_028435.2:n.193C>T |