Linked Data
ClinVar Variation Id:
346027
ClinVar RCV Id:
RCV000369392
dbSNP Id:
rs143731179
ExAC:
3:49454843 C / A
gnomAD v2:
3-49454843-C-A
gnomAD v3:
3-49417410-C-A
gnomAD v4:
3-49417410-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417410C>A , CM000665.2:g.49417410C>A | GRCh38 |
| NC_000003.11:g.49454843C>A , CM000665.1:g.49454843C>A | GRCh37 |
| NC_000003.10:g.49429847C>A | NCBI36 |
| NG_015986.1:g.10269G>T , LRG_537:g.10269G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.*130G>T MANE Select | ENSP00000273588.3:n.*130G>T | |
| ENST00000395338.7:c.1138-43G>T | ENSP00000378747.2:n.1138-43G>T | |
| ENST00000427987.6:c.994-43G>T | ENSP00000403821.2:n.994-43G>T | |
| ENST00000465925.6:n.3344G>T | ||
| ENST00000473163.2:n.3958G>T | ||
| ENST00000476127.6:n.1571G>T | ||
| ENST00000476226.6:n.1763G>T | ||
| ENST00000478594.6:n.1565-43G>T | ||
| ENST00000493046.6:n.3058G>T | ||
| ENST00000538581.6:c.*130G>T | ENSP00000443200.2:n.*130G>T | |
| ENST00000635772.1:n.2180G>T | ||
| ENST00000635798.1:n.700G>T | ||
| ENST00000635808.1:c.1057-43G>T | ENSP00000489620.1:n.1057-43G>T | |
| ENST00000635889.1:n.1835G>T | ||
| ENST00000635936.1:n.1610G>T | ||
| ENST00000636023.1:c.*515G>T | ENSP00000489969.1:n.*515G>T | |
| ENST00000636070.1:c.*1122G>T | ENSP00000490160.1:n.*1122G>T | |
| ENST00000636148.1:n.3395G>T | ||
| ENST00000636166.1:c.*130G>T | ENSP00000490106.1:n.*130G>T | |
| ENST00000636188.1:c.317-101G>T | ||
| ENST00000636199.1:c.*130G>T | ENSP00000490871.1:n.*130G>T | |
| ENST00000636204.1:n.2624G>T | ||
| ENST00000636461.1:c.4876G>T | ||
| ENST00000636522.1:c.*130G>T | ENSP00000489758.1:n.*130G>T | |
| ENST00000636587.1:n.1428G>T | ||
| ENST00000636594.1:n.963G>T | ||
| ENST00000636597.1:c.*130G>T | ENSP00000490251.1:n.*130G>T | |
| ENST00000636725.1:n.2058G>T | ||
| ENST00000636803.1:n.1480-43G>T | ||
| ENST00000636865.1:c.*130G>T | ENSP00000490601.1:n.*130G>T | |
| ENST00000636871.1:n.1503-43G>T | ||
| ENST00000636978.1:n.1250-53G>T | ||
| ENST00000636991.1:n.1787G>T | ||
| ENST00000637059.1:c.794G>T | ENSP00000490153.1:n.794G>T | |
| ENST00000637088.1:n.6154G>T | ||
| ENST00000637114.1:n.1442G>T | ||
| ENST00000637268.1:n.2243G>T | ||
| ENST00000637291.1:n.2076G>T | ||
| ENST00000637442.1:n.3563G>T | ||
| ENST00000637455.1:c.949-53G>T | ENSP00000489628.1:n.949-53G>T | |
| ENST00000637457.1:n.2203G>T | ||
| ENST00000637527.1:n.634G>T | ||
| ENST00000637682.1:c.*130G>T | ENSP00000489856.1:n.*130G>T | |
| ENST00000637684.1:n.1552G>T | ||
| ENST00000637821.1:c.*1537G>T | ENSP00000490482.1:n.*1537G>T | |
| ENST00000637914.1:n.3236G>T | ||
| ENST00000637982.1:n.1756G>T | ||
| ENST00000637994.1:n.1882G>T | ||
| ENST00000638014.1:c.4045-43G>T | ||
| ENST00000638063.1:c.*130G>T | ENSP00000489760.1:n.*130G>T | |
| ENST00000638079.1:c.*1854G>T | ENSP00000490120.1:n.*1854G>T | |
| ENST00000638092.1:n.1862G>T | ||
| ENST00000638115.1:c.*3103G>T | ENSP00000490296.1:n.*3103G>T | |
| ENST00000273588.7:c.*130G>T | ENSP00000273588.3:n.*130G>T | |
| ENST00000395338.6:c.1138-43G>T | ENSP00000378747.2:n.1138-43G>T | |
| ENST00000427987.5:c.1130-43G>T | ||
| ENST00000458307.6:c.*130G>T | ENSP00000415619.2:n.*130G>T | |
| ENST00000465925.5:n.2640G>T | ||
| ENST00000476127.5:n.1101G>T | ||
| ENST00000476226.5:n.1407G>T | ||
| ENST00000538581.5:c.*130G>T | ENSP00000443200.1:n.*130G>T | |
| NM_000481.3:c.*130G>T , LRG_537t1:c.*130G>T | NP_000472.2:n.*130G>T | |
| NM_001164710.1:c.*130G>T | NP_001158182.1:n.*130G>T | |
| NM_001164711.1:c.*130G>T | NP_001158183.1:n.*130G>T | |
| NM_001164712.1:c.1138-43G>T | NP_001158184.1:n.1138-43G>T | |
| NR_028435.1:n.1556G>T | ||
| NM_000481.4:c.*130G>T MANE Select | NP_000472.2:n.*130G>T | |
| NM_001164710.2:c.*130G>T | NP_001158182.1:n.*130G>T | |
| NM_001164711.2:c.*130G>T | NP_001158183.1:n.*130G>T | |
| NM_001164712.2:c.1138-43G>T | NP_001158184.1:n.1138-43G>T | |
| NR_028435.2:n.1351G>T |