Linked Data
ClinVar Variation Id:
346032
dbSNP Id:
rs555045517
ExAC:
3:49457180 G / A
gnomAD v2:
3-49457180-G-A
gnomAD v3:
3-49419747-G-A
gnomAD v4:
3-49419747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419747G>A , CM000665.2:g.49419747G>A | GRCh38 |
| NC_000003.11:g.49457180G>A , CM000665.1:g.49457180G>A | GRCh37 |
| NC_000003.10:g.49432184G>A | NCBI36 |
| NG_015986.1:g.7932C>T , LRG_537:g.7932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.513C>T MANE Select | ENSP00000273588.3:p.Gly171= | |
| ENST00000395338.7:c.513C>T | ENSP00000378747.2:p.Gly171= | |
| ENST00000399379.7:c.315C>T | ENSP00000399943.2:p.Gly105= | |
| ENST00000427987.6:c.369C>T | ENSP00000403821.2:p.Gly123= | |
| ENST00000430521.2:c.*315C>T | ENSP00000388068.2:n.*315C>T | |
| ENST00000465925.6:n.2103C>T | ||
| ENST00000473163.2:n.2717C>T | ||
| ENST00000476127.6:n.812C>T | ||
| ENST00000476226.6:n.934C>T | ||
| ENST00000476828.2:n.908C>T | ||
| ENST00000478594.6:n.940C>T | ||
| ENST00000480957.6:n.2102C>T | ||
| ENST00000487589.6:n.426C>T | ||
| ENST00000491800.3:n.2726C>T | ||
| ENST00000493046.6:n.2712C>T | ||
| ENST00000538581.6:c.369C>T | ENSP00000443200.2:p.Gly123= | |
| ENST00000635772.1:n.939C>T | ||
| ENST00000635798.1:n.208C>T | ||
| ENST00000635808.1:c.432C>T | ENSP00000489620.1:p.Gly144= | |
| ENST00000635889.1:n.944C>T | ||
| ENST00000635907.1:n.104C>T | ||
| ENST00000635936.1:n.927C>T | ||
| ENST00000636023.1:c.513C>T | ENSP00000489969.1:p.Gly171= | |
| ENST00000636070.1:c.*293C>T | ENSP00000490160.1:n.*293C>T | |
| ENST00000636148.1:n.2154C>T | ||
| ENST00000636166.1:c.750C>T | ENSP00000490106.1:p.Gly250= | |
| ENST00000636199.1:c.259-596C>T | ENSP00000490871.1:n.259-596C>T | |
| ENST00000636204.1:n.1795C>T | ||
| ENST00000636461.1:c.4047C>T | ||
| ENST00000636522.1:c.345C>T | ENSP00000489758.1:p.Gly115= | |
| ENST00000636587.1:n.745C>T | ||
| ENST00000636597.1:c.513C>T | ENSP00000490251.1:p.Gly171= | |
| ENST00000636725.1:n.925C>T | ||
| ENST00000636803.1:n.925C>T | ||
| ENST00000636865.1:c.369C>T | ENSP00000490601.1:p.Gly123= | |
| ENST00000636871.1:n.878C>T | ||
| ENST00000636978.1:n.517C>T | ||
| ENST00000636991.1:n.958C>T | ||
| ENST00000637059.1:c.111C>T | ENSP00000490153.1:p.Gly37= | |
| ENST00000637088.1:n.5021C>T | ||
| ENST00000637114.1:n.505C>T | ||
| ENST00000637268.1:n.940C>T | ||
| ENST00000637291.1:n.943C>T | ||
| ENST00000637442.1:n.2430C>T | ||
| ENST00000637455.1:c.324C>T | ENSP00000489628.1:p.Gly108= | |
| ENST00000637457.1:n.962C>T | ||
| ENST00000637682.1:c.513C>T | ENSP00000489856.1:p.Gly171= | |
| ENST00000637684.1:n.615C>T | ||
| ENST00000637821.1:c.*715C>T | ENSP00000490482.1:n.*715C>T | |
| ENST00000637914.1:n.2103C>T | ||
| ENST00000637982.1:n.927C>T | ||
| ENST00000637994.1:n.945C>T | ||
| ENST00000638014.1:c.3294C>T | ||
| ENST00000638063.1:c.432C>T | ENSP00000489760.1:p.Gly144= | |
| ENST00000638079.1:c.*1025C>T | ENSP00000490120.1:n.*1025C>T | |
| ENST00000638092.1:n.925C>T | ||
| ENST00000638115.1:c.*2274C>T | ENSP00000490296.1:n.*2274C>T | |
| ENST00000273588.7:c.513C>T | ENSP00000273588.3:p.Gly171= | |
| ENST00000395338.6:c.513C>T | ENSP00000378747.2:p.Gly171= | |
| ENST00000399379.6:c.*293C>T | ENSP00000399943.1:n.*293C>T | |
| ENST00000427987.5:c.505C>T | ||
| ENST00000430521.1:c.345C>T | ENSP00000388068.1:p.Gly115= | |
| ENST00000458307.6:c.381C>T | ENSP00000415619.2:p.Gly127= | |
| ENST00000461210.1:n.695C>T | ||
| ENST00000465925.5:n.1399C>T | ||
| ENST00000476127.5:n.272C>T | ||
| ENST00000476226.5:n.578C>T | ||
| ENST00000478594.5:n.929C>T | ||
| ENST00000487589.5:n.615C>T | ||
| ENST00000495436.5:n.471C>T | ||
| ENST00000538581.5:c.345C>T | ENSP00000443200.1:p.Gly115= | |
| NM_000481.3:c.513C>T , LRG_537t1:c.513C>T | NP_000472.2:p.Gly171= | |
| NM_001164710.1:c.381C>T | NP_001158182.1:p.Gly127= | |
| NM_001164711.1:c.345C>T | NP_001158183.1:p.Gly115= | |
| NM_001164712.1:c.513C>T | NP_001158184.1:p.Gly171= | |
| NR_028435.1:n.727C>T | ||
| NM_000481.4:c.513C>T MANE Select | NP_000472.2:p.Gly171= | |
| NM_001164710.2:c.381C>T | NP_001158182.1:p.Gly127= | |
| NM_001164711.2:c.345C>T | NP_001158183.1:p.Gly115= | |
| NM_001164712.2:c.513C>T | NP_001158184.1:p.Gly171= | |
| NR_028435.2:n.522C>T |