Linked Data
ClinVar Variation Id:
346026
ClinVar RCV Id:
RCV000314747
dbSNP Id:
rs200568631
ExAC:
3:49454810 C / G
gnomAD v2:
3-49454810-C-G
gnomAD v3:
3-49417377-C-G
gnomAD v4:
3-49417377-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417377C>G , CM000665.2:g.49417377C>G | GRCh38 |
| NC_000003.11:g.49454810C>G , CM000665.1:g.49454810C>G | GRCh37 |
| NC_000003.10:g.49429814C>G | NCBI36 |
| NG_015986.1:g.10302G>C , LRG_537:g.10302G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.*163G>C MANE Select | ENSP00000273588.3:n.*163G>C | |
| ENST00000395338.7:c.1138-10G>C | ENSP00000378747.2:n.1138-10G>C | |
| ENST00000427987.6:c.994-10G>C | ENSP00000403821.2:n.994-10G>C | |
| ENST00000465925.6:n.3377G>C | ||
| ENST00000473163.2:n.3991G>C | ||
| ENST00000476127.6:n.1604G>C | ||
| ENST00000476226.6:n.1796G>C | ||
| ENST00000478594.6:n.1565-10G>C | ||
| ENST00000493046.6:n.3091G>C | ||
| ENST00000538581.6:c.*163G>C | ENSP00000443200.2:n.*163G>C | |
| ENST00000635772.1:n.2213G>C | ||
| ENST00000635798.1:n.733G>C | ||
| ENST00000635808.1:c.1057-10G>C | ENSP00000489620.1:n.1057-10G>C | |
| ENST00000635889.1:n.1868G>C | ||
| ENST00000635936.1:n.1643G>C | ||
| ENST00000636023.1:c.*548G>C | ENSP00000489969.1:n.*548G>C | |
| ENST00000636070.1:c.*1155G>C | ENSP00000490160.1:n.*1155G>C | |
| ENST00000636148.1:n.3428G>C | ||
| ENST00000636166.1:c.*163G>C | ENSP00000490106.1:n.*163G>C | |
| ENST00000636188.1:c.317-68G>C | ||
| ENST00000636199.1:c.*163G>C | ENSP00000490871.1:n.*163G>C | |
| ENST00000636204.1:n.2657G>C | ||
| ENST00000636461.1:c.4909G>C | ||
| ENST00000636522.1:c.*163G>C | ENSP00000489758.1:n.*163G>C | |
| ENST00000636587.1:n.1461G>C | ||
| ENST00000636594.1:n.996G>C | ||
| ENST00000636597.1:c.*163G>C | ENSP00000490251.1:n.*163G>C | |
| ENST00000636725.1:n.2091G>C | ||
| ENST00000636803.1:n.1480-10G>C | ||
| ENST00000636865.1:c.*163G>C | ENSP00000490601.1:n.*163G>C | |
| ENST00000636871.1:n.1503-10G>C | ||
| ENST00000636978.1:n.1250-20G>C | ||
| ENST00000636991.1:n.1820G>C | ||
| ENST00000637059.1:c.827G>C | ENSP00000490153.1:n.827G>C | |
| ENST00000637088.1:n.6187G>C | ||
| ENST00000637114.1:n.1475G>C | ||
| ENST00000637268.1:n.2276G>C | ||
| ENST00000637291.1:n.2109G>C | ||
| ENST00000637442.1:n.3596G>C | ||
| ENST00000637455.1:c.949-20G>C | ENSP00000489628.1:n.949-20G>C | |
| ENST00000637457.1:n.2236G>C | ||
| ENST00000637527.1:n.667G>C | ||
| ENST00000637682.1:c.*163G>C | ENSP00000489856.1:n.*163G>C | |
| ENST00000637684.1:n.1585G>C | ||
| ENST00000637821.1:c.*1570G>C | ENSP00000490482.1:n.*1570G>C | |
| ENST00000637914.1:n.3269G>C | ||
| ENST00000637982.1:n.1789G>C | ||
| ENST00000637994.1:n.1915G>C | ||
| ENST00000638014.1:c.4045-10G>C | ||
| ENST00000638063.1:c.*163G>C | ENSP00000489760.1:n.*163G>C | |
| ENST00000638079.1:c.*1887G>C | ENSP00000490120.1:n.*1887G>C | |
| ENST00000638092.1:n.1895G>C | ||
| ENST00000638115.1:c.*3136G>C | ENSP00000490296.1:n.*3136G>C | |
| ENST00000273588.7:c.*163G>C | ENSP00000273588.3:n.*163G>C | |
| ENST00000395338.6:c.1138-10G>C | ENSP00000378747.2:n.1138-10G>C | |
| ENST00000427987.5:c.1130-10G>C | ||
| ENST00000458307.6:c.*163G>C | ENSP00000415619.2:n.*163G>C | |
| ENST00000465925.5:n.2673G>C | ||
| ENST00000476226.5:n.1440G>C | ||
| ENST00000538581.5:c.*163G>C | ENSP00000443200.1:n.*163G>C | |
| NM_000481.3:c.*163G>C , LRG_537t1:c.*163G>C | NP_000472.2:n.*163G>C | |
| NM_001164710.1:c.*163G>C | NP_001158182.1:n.*163G>C | |
| NM_001164711.1:c.*163G>C | NP_001158183.1:n.*163G>C | |
| NM_001164712.1:c.1138-10G>C | NP_001158184.1:n.1138-10G>C | |
| NR_028435.1:n.1589G>C | ||
| NM_000481.4:c.*163G>C MANE Select | NP_000472.2:n.*163G>C | |
| NM_001164710.2:c.*163G>C | NP_001158182.1:n.*163G>C | |
| NM_001164711.2:c.*163G>C | NP_001158183.1:n.*163G>C | |
| NM_001164712.2:c.1138-10G>C | NP_001158184.1:n.1138-10G>C | |
| NR_028435.2:n.1384G>C |