Linked Data
dbSNP Id:
rs749494017
ExAC:
3:49459538 T / C
gnomAD v2:
3-49459538-T-C
gnomAD v4:
3-49422105-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422105T>C , CM000665.2:g.49422105T>C | GRCh38 |
| NC_000003.11:g.49459538T>C , CM000665.1:g.49459538T>C | GRCh37 |
| NC_000003.10:g.49434542T>C | NCBI36 |
| NG_015986.1:g.5574A>G , LRG_537:g.5574A>G | |
| NG_033046.1:g.12220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.257A>G MANE Select | ENSP00000273588.3:p.Gln86Arg | |
| ENST00000395338.7:c.257A>G | ENSP00000378747.2:p.Gln86Arg | |
| ENST00000399379.7:c.60+256A>G | ENSP00000399943.2:n.60+256A>G | |
| ENST00000427987.6:c.113A>G | ENSP00000403821.2:p.Gln38Arg | |
| ENST00000430521.2:c.91-56A>G | ENSP00000388068.2:n.91-56A>G | |
| ENST00000462048.2:c.-101-56A>G | ENSP00000490465.1:n.-101-56A>G | |
| ENST00000465925.6:n.276A>G | ||
| ENST00000473163.2:n.359A>G | ||
| ENST00000476127.6:n.134A>G | ||
| ENST00000476226.6:n.256A>G | ||
| ENST00000478594.6:n.262A>G | ||
| ENST00000480957.6:n.275A>G | ||
| ENST00000485108.6:n.387A>G | ||
| ENST00000487589.6:n.170A>G | ||
| ENST00000491800.3:n.368A>G | ||
| ENST00000493046.6:n.354A>G | ||
| ENST00000538581.6:c.113A>G | ENSP00000443200.2:p.Gln38Arg | |
| ENST00000635772.1:n.261A>G | ||
| ENST00000635808.1:c.257A>G | ENSP00000489620.1:p.Gln86Arg | |
| ENST00000635889.1:n.266A>G | ||
| ENST00000635936.1:n.249A>G | ||
| ENST00000636023.1:c.257A>G | ENSP00000489969.1:p.Gln86Arg | |
| ENST00000636070.1:c.91-56A>G | ENSP00000490160.1:n.91-56A>G | |
| ENST00000636148.1:n.327A>G | ||
| ENST00000636166.1:c.496-533A>G | ENSP00000490106.1:n.496-533A>G | |
| ENST00000636199.1:c.257A>G | ENSP00000490871.1:p.Gln86Arg | |
| ENST00000636204.1:n.1539A>G | ||
| ENST00000636461.1:c.3369A>G | ||
| ENST00000636522.1:c.90+256A>G | ENSP00000489758.1:n.90+256A>G | |
| ENST00000636587.1:n.489A>G | ||
| ENST00000636597.1:c.257A>G | ENSP00000490251.1:p.Gln86Arg | |
| ENST00000636725.1:n.247A>G | ||
| ENST00000636803.1:n.247A>G | ||
| ENST00000636865.1:c.113A>G | ENSP00000490601.1:p.Gln38Arg | |
| ENST00000636871.1:n.200A>G | ||
| ENST00000636978.1:n.261A>G | ||
| ENST00000636991.1:n.280A>G | ||
| ENST00000637059.1:c.68A>G | ENSP00000490153.1:p.Gln23Arg | |
| ENST00000637088.1:n.3812A>G | ||
| ENST00000637114.1:n.249A>G | ||
| ENST00000637268.1:n.262A>G | ||
| ENST00000637291.1:n.265A>G | ||
| ENST00000637442.1:n.1752A>G | ||
| ENST00000637455.1:c.68A>G | ENSP00000489628.1:p.Gln23Arg | |
| ENST00000637457.1:n.284A>G | ||
| ENST00000637682.1:c.257A>G | ENSP00000489856.1:p.Gln86Arg | |
| ENST00000637684.1:n.359A>G | ||
| ENST00000637821.1:c.91-56A>G | ENSP00000490482.1:n.91-56A>G | |
| ENST00000637914.1:n.276A>G | ||
| ENST00000637982.1:n.249A>G | ||
| ENST00000637994.1:n.267A>G | ||
| ENST00000638014.1:c.3038A>G | ||
| ENST00000638063.1:c.257A>G | ENSP00000489760.1:p.Gln86Arg | |
| ENST00000638079.1:c.*773A>G | ENSP00000490120.1:n.*773A>G | |
| ENST00000638092.1:n.247A>G | ||
| ENST00000638115.1:c.*2018A>G | ENSP00000490296.1:n.*2018A>G | |
| ENST00000273588.7:c.257A>G | ENSP00000273588.3:p.Gln86Arg | |
| ENST00000395338.6:c.257A>G | ENSP00000378747.2:p.Gln86Arg | |
| ENST00000399379.6:c.91-56A>G | ENSP00000399943.1:n.91-56A>G | |
| ENST00000427987.5:c.249A>G | ||
| ENST00000430521.1:c.90+256A>G | ENSP00000388068.1:n.90+256A>G | |
| ENST00000458307.6:c.257A>G | ENSP00000415619.2:p.Gln86Arg | |
| ENST00000462048.1:n.248-56A>G | ||
| ENST00000476226.5:n.322A>G | ||
| ENST00000478594.5:n.251A>G | ||
| ENST00000480957.5:n.265A>G | ||
| ENST00000485108.5:n.251A>G | ||
| ENST00000487589.5:n.359A>G | ||
| ENST00000493046.5:n.92-56A>G | ||
| ENST00000495436.5:n.347A>G | ||
| ENST00000498571.1:n.255A>G | ||
| ENST00000538581.5:c.90+256A>G | ENSP00000443200.1:n.90+256A>G | |
| NM_000481.3:c.257A>G , LRG_537t1:c.257A>G | NP_000472.2:p.Gln86Arg | |
| NM_001164710.1:c.257A>G | NP_001158182.1:p.Gln86Arg | |
| NM_001164711.1:c.90+256A>G | NP_001158183.1:n.90+256A>G | |
| NM_001164712.1:c.257A>G | NP_001158184.1:p.Gln86Arg | |
| NR_028435.1:n.471A>G | ||
| NM_000481.4:c.257A>G MANE Select | NP_000472.2:p.Gln86Arg | |
| NM_001164710.2:c.257A>G | NP_001158182.1:p.Gln86Arg | |
| NM_001164711.2:c.90+256A>G | NP_001158183.1:n.90+256A>G | |
| NM_001164712.2:c.257A>G | NP_001158184.1:p.Gln86Arg | |
| NR_028435.2:n.266A>G |