Linked Data
ClinVar Variation Id:
508506
dbSNP Id:
rs761235679
ExAC:
3:49459713 G / A
gnomAD v2:
3-49459713-G-A
gnomAD v3:
3-49422280-G-A
gnomAD v4:
3-49422280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422280G>A , CM000665.2:g.49422280G>A | GRCh38 |
| NC_000003.11:g.49459713G>A , CM000665.1:g.49459713G>A | GRCh37 |
| NC_000003.10:g.49434717G>A | NCBI36 |
| NG_015986.1:g.5399C>T , LRG_537:g.5399C>T | |
| NG_033046.1:g.12045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.91-9C>T MANE Select | ENSP00000273588.3:n.91-9C>T | |
| ENST00000395338.7:c.91-9C>T | ENSP00000378747.2:n.91-9C>T | |
| ENST00000399379.7:c.60+81C>T | ENSP00000399943.2:n.60+81C>T | |
| ENST00000427987.6:c.-40-23C>T | ENSP00000403821.2:n.-40-23C>T | |
| ENST00000430521.2:c.90+81C>T | ENSP00000388068.2:n.90+81C>T | |
| ENST00000462048.2:c.-102+159C>T | ENSP00000490465.1:n.-102+159C>T | |
| ENST00000465925.6:n.110-9C>T | ||
| ENST00000473163.2:n.184C>T | ||
| ENST00000476226.6:n.104-23C>T | ||
| ENST00000478594.6:n.110-23C>T | ||
| ENST00000480957.6:n.109-9C>T | ||
| ENST00000485108.6:n.221-9C>T | ||
| ENST00000487589.6:n.18-23C>T | ||
| ENST00000491800.3:n.193C>T | ||
| ENST00000493046.6:n.179C>T | ||
| ENST00000538581.6:c.-40-23C>T | ENSP00000443200.2:n.-40-23C>T | |
| ENST00000635772.1:n.95-9C>T | ||
| ENST00000635808.1:c.91-9C>T | ENSP00000489620.1:n.91-9C>T | |
| ENST00000635889.1:n.114-23C>T | ||
| ENST00000635936.1:n.74C>T | ||
| ENST00000636023.1:c.91-9C>T | ENSP00000489969.1:n.91-9C>T | |
| ENST00000636070.1:c.90+81C>T | ENSP00000490160.1:n.90+81C>T | |
| ENST00000636148.1:n.152C>T | ||
| ENST00000636166.1:c.496-708C>T | ENSP00000490106.1:n.496-708C>T | |
| ENST00000636199.1:c.91-9C>T | ENSP00000490871.1:n.91-9C>T | |
| ENST00000636204.1:n.1364C>T | ||
| ENST00000636461.1:c.3194C>T | ||
| ENST00000636522.1:c.90+81C>T | ENSP00000489758.1:n.90+81C>T | |
| ENST00000636587.1:n.314C>T | ||
| ENST00000636597.1:c.91-9C>T | ENSP00000490251.1:n.91-9C>T | |
| ENST00000636725.1:n.95-23C>T | ||
| ENST00000636803.1:n.95-23C>T | ||
| ENST00000636865.1:c.-40-23C>T | ENSP00000490601.1:n.-40-23C>T | |
| ENST00000636871.1:n.34-9C>T | ||
| ENST00000636978.1:n.95-9C>T | ||
| ENST00000636991.1:n.114-9C>T | ||
| ENST00000637088.1:n.3637C>T | ||
| ENST00000637114.1:n.83-9C>T | ||
| ENST00000637268.1:n.110-23C>T | ||
| ENST00000637291.1:n.99-9C>T | ||
| ENST00000637442.1:n.1577C>T | ||
| ENST00000637457.1:n.132-23C>T | ||
| ENST00000637682.1:c.91-9C>T | ENSP00000489856.1:n.91-9C>T | |
| ENST00000637684.1:n.184C>T | ||
| ENST00000637821.1:c.90+81C>T | ENSP00000490482.1:n.90+81C>T | |
| ENST00000637914.1:n.110-9C>T | ||
| ENST00000637982.1:n.74C>T | ||
| ENST00000637994.1:n.101-9C>T | ||
| ENST00000638014.1:c.2863C>T | ||
| ENST00000638063.1:c.91-9C>T | ENSP00000489760.1:n.91-9C>T | |
| ENST00000638079.1:c.*607-9C>T | ENSP00000490120.1:n.*607-9C>T | |
| ENST00000638092.1:n.95-23C>T | ||
| ENST00000638115.1:c.*1852-9C>T | ENSP00000490296.1:n.*1852-9C>T | |
| ENST00000273588.7:c.91-9C>T | ENSP00000273588.3:n.91-9C>T | |
| ENST00000395338.6:c.91-9C>T | ENSP00000378747.2:n.91-9C>T | |
| ENST00000399379.6:c.90+81C>T | ENSP00000399943.1:n.90+81C>T | |
| ENST00000427987.5:c.83-9C>T | ||
| ENST00000430521.1:c.90+81C>T | ENSP00000388068.1:n.90+81C>T | |
| ENST00000458307.6:c.91-9C>T | ENSP00000415619.2:n.91-9C>T | |
| ENST00000462048.1:n.247+159C>T | ||
| ENST00000476226.5:n.170-23C>T | ||
| ENST00000478594.5:n.99-23C>T | ||
| ENST00000480957.5:n.99-9C>T | ||
| ENST00000485108.5:n.99-23C>T | ||
| ENST00000487589.5:n.184C>T | ||
| ENST00000493046.5:n.91+81C>T | ||
| ENST00000495436.5:n.172C>T | ||
| ENST00000498571.1:n.89-9C>T | ||
| ENST00000538581.5:c.90+81C>T | ENSP00000443200.1:n.90+81C>T | |
| NM_000481.3:c.91-9C>T , LRG_537t1:c.91-9C>T | NP_000472.2:n.91-9C>T | |
| NM_001164710.1:c.91-9C>T | NP_001158182.1:n.91-9C>T | |
| NM_001164711.1:c.90+81C>T | NP_001158183.1:n.90+81C>T | |
| NM_001164712.1:c.91-9C>T | NP_001158184.1:n.91-9C>T | |
| NR_028435.1:n.319-23C>T | ||
| NM_000481.4:c.91-9C>T MANE Select | NP_000472.2:n.91-9C>T | |
| NM_001164710.2:c.91-9C>T | NP_001158182.1:n.91-9C>T | |
| NM_001164711.2:c.90+81C>T | NP_001158183.1:n.90+81C>T | |
| NM_001164712.2:c.91-9C>T | NP_001158184.1:n.91-9C>T | |
| NR_028435.2:n.114-23C>T |