Linked Data
ClinVar Variation Id:
971783
ClinVar RCV Id:
RCV001247646
dbSNP Id:
rs148917929
ExAC:
3:49459647 C / G
gnomAD v2:
3-49459647-C-G
gnomAD v3:
3-49422214-C-G
gnomAD v4:
3-49422214-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422214C>G , CM000665.2:g.49422214C>G | GRCh38 |
| NC_000003.11:g.49459647C>G , CM000665.1:g.49459647C>G | GRCh37 |
| NC_000003.10:g.49434651C>G | NCBI36 |
| NG_015986.1:g.5465G>C , LRG_537:g.5465G>C | |
| NG_033046.1:g.12111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.148G>C MANE Select | ENSP00000273588.3:p.Val50Leu | |
| ENST00000395338.7:c.148G>C | ENSP00000378747.2:p.Val50Leu | |
| ENST00000399379.7:c.60+147G>C | ENSP00000399943.2:n.60+147G>C | |
| ENST00000427987.6:c.4G>C | ENSP00000403821.2:p.Val2Leu | |
| ENST00000430521.2:c.90+147G>C | ENSP00000388068.2:n.90+147G>C | |
| ENST00000462048.2:c.-101-165G>C | ENSP00000490465.1:n.-101-165G>C | |
| ENST00000465925.6:n.167G>C | ||
| ENST00000473163.2:n.250G>C | ||
| ENST00000476127.6:n.25G>C | ||
| ENST00000476226.6:n.147G>C | ||
| ENST00000478594.6:n.153G>C | ||
| ENST00000480957.6:n.166G>C | ||
| ENST00000485108.6:n.278G>C | ||
| ENST00000487589.6:n.61G>C | ||
| ENST00000491800.3:n.259G>C | ||
| ENST00000493046.6:n.245G>C | ||
| ENST00000538581.6:c.4G>C | ENSP00000443200.2:p.Val2Leu | |
| ENST00000635772.1:n.152G>C | ||
| ENST00000635808.1:c.148G>C | ENSP00000489620.1:p.Val50Leu | |
| ENST00000635889.1:n.157G>C | ||
| ENST00000635936.1:n.140G>C | ||
| ENST00000636023.1:c.148G>C | ENSP00000489969.1:p.Val50Leu | |
| ENST00000636070.1:c.90+147G>C | ENSP00000490160.1:n.90+147G>C | |
| ENST00000636148.1:n.218G>C | ||
| ENST00000636166.1:c.496-642G>C | ENSP00000490106.1:n.496-642G>C | |
| ENST00000636199.1:c.148G>C | ENSP00000490871.1:p.Val50Leu | |
| ENST00000636204.1:n.1430G>C | ||
| ENST00000636461.1:c.3260G>C | ||
| ENST00000636522.1:c.90+147G>C | ENSP00000489758.1:n.90+147G>C | |
| ENST00000636587.1:n.380G>C | ||
| ENST00000636597.1:c.148G>C | ENSP00000490251.1:p.Val50Leu | |
| ENST00000636725.1:n.138G>C | ||
| ENST00000636803.1:n.138G>C | ||
| ENST00000636865.1:c.4G>C | ENSP00000490601.1:p.Val2Leu | |
| ENST00000636871.1:n.91G>C | ||
| ENST00000636978.1:n.152G>C | ||
| ENST00000636991.1:n.171G>C | ||
| ENST00000637088.1:n.3703G>C | ||
| ENST00000637114.1:n.140G>C | ||
| ENST00000637268.1:n.153G>C | ||
| ENST00000637291.1:n.156G>C | ||
| ENST00000637442.1:n.1643G>C | ||
| ENST00000637457.1:n.175G>C | ||
| ENST00000637682.1:c.148G>C | ENSP00000489856.1:p.Val50Leu | |
| ENST00000637684.1:n.250G>C | ||
| ENST00000637821.1:c.90+147G>C | ENSP00000490482.1:n.90+147G>C | |
| ENST00000637914.1:n.167G>C | ||
| ENST00000637982.1:n.140G>C | ||
| ENST00000637994.1:n.158G>C | ||
| ENST00000638014.1:c.2929G>C | ||
| ENST00000638063.1:c.148G>C | ENSP00000489760.1:p.Val50Leu | |
| ENST00000638079.1:c.*664G>C | ENSP00000490120.1:n.*664G>C | |
| ENST00000638092.1:n.138G>C | ||
| ENST00000638115.1:c.*1909G>C | ENSP00000490296.1:n.*1909G>C | |
| ENST00000273588.7:c.148G>C | ENSP00000273588.3:p.Val50Leu | |
| ENST00000395338.6:c.148G>C | ENSP00000378747.2:p.Val50Leu | |
| ENST00000399379.6:c.90+147G>C | ENSP00000399943.1:n.90+147G>C | |
| ENST00000427987.5:c.140G>C | ||
| ENST00000430521.1:c.90+147G>C | ENSP00000388068.1:n.90+147G>C | |
| ENST00000458307.6:c.148G>C | ENSP00000415619.2:p.Val50Leu | |
| ENST00000462048.1:n.248-165G>C | ||
| ENST00000476226.5:n.213G>C | ||
| ENST00000478594.5:n.142G>C | ||
| ENST00000480957.5:n.156G>C | ||
| ENST00000485108.5:n.142G>C | ||
| ENST00000487589.5:n.250G>C | ||
| ENST00000493046.5:n.91+147G>C | ||
| ENST00000495436.5:n.238G>C | ||
| ENST00000498571.1:n.146G>C | ||
| ENST00000538581.5:c.90+147G>C | ENSP00000443200.1:n.90+147G>C | |
| NM_000481.3:c.148G>C , LRG_537t1:c.148G>C | NP_000472.2:p.Val50Leu | |
| NM_001164710.1:c.148G>C | NP_001158182.1:p.Val50Leu | |
| NM_001164711.1:c.90+147G>C | NP_001158183.1:n.90+147G>C | |
| NM_001164712.1:c.148G>C | NP_001158184.1:p.Val50Leu | |
| NR_028435.1:n.362G>C | ||
| NM_000481.4:c.148G>C MANE Select | NP_000472.2:p.Val50Leu | |
| NM_001164710.2:c.148G>C | NP_001158182.1:p.Val50Leu | |
| NM_001164711.2:c.90+147G>C | NP_001158183.1:n.90+147G>C | |
| NM_001164712.2:c.148G>C | NP_001158184.1:p.Val50Leu | |
| NR_028435.2:n.157G>C |