Linked Data
ClinVar Variation Id:
11981
dbSNP Id:
rs181134220
ExAC:
3:49455407 C / T
gnomAD v2:
3-49455407-C-T
gnomAD v3:
3-49417974-C-T
gnomAD v4:
3-49417974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417974C>T , CM000665.2:g.49417974C>T | GRCh38 |
| NC_000003.11:g.49455407C>T , CM000665.1:g.49455407C>T | GRCh37 |
| NC_000003.10:g.49430411C>T | NCBI36 |
| NG_015986.1:g.9705G>A , LRG_537:g.9705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.878-1G>A MANE Select | ENSP00000273588.3:n.878-1G>A | |
| ENST00000395338.7:c.878-1G>A | ENSP00000378747.2:n.878-1G>A | |
| ENST00000399379.7:c.610-1G>A | ENSP00000399943.2:n.610-1G>A | |
| ENST00000427987.6:c.734-1G>A | ENSP00000403821.2:n.734-1G>A | |
| ENST00000465925.6:n.2880-1G>A | ||
| ENST00000473163.2:n.3494-1G>A | ||
| ENST00000476127.6:n.1107-1G>A | ||
| ENST00000476226.6:n.1299-1G>A | ||
| ENST00000478594.6:n.1305-1G>A | ||
| ENST00000493046.6:n.2750-256G>A | ||
| ENST00000538581.6:c.734-1G>A | ENSP00000443200.2:n.734-1G>A | |
| ENST00000635772.1:n.1716-1G>A | ||
| ENST00000635798.1:n.392-256G>A | ||
| ENST00000635808.1:c.797-1G>A | ENSP00000489620.1:n.797-1G>A | |
| ENST00000635889.1:n.1371-1G>A | ||
| ENST00000635907.1:n.592-256G>A | ||
| ENST00000635936.1:n.1146-1G>A | ||
| ENST00000636023.1:c.*51-1G>A | ENSP00000489969.1:n.*51-1G>A | |
| ENST00000636070.1:c.*658-1G>A | ENSP00000490160.1:n.*658-1G>A | |
| ENST00000636148.1:n.2931-1G>A | ||
| ENST00000636166.1:c.1115-1G>A | ENSP00000490106.1:n.1115-1G>A | |
| ENST00000636188.1:c.57-1G>A | ||
| ENST00000636199.1:c.440-1G>A | ENSP00000490871.1:n.440-1G>A | |
| ENST00000636204.1:n.2160-1G>A | ||
| ENST00000636461.1:c.4412-1G>A | ||
| ENST00000636522.1:c.710-1G>A | ENSP00000489758.1:n.710-1G>A | |
| ENST00000636587.1:n.964-1G>A | ||
| ENST00000636594.1:n.399G>A | ||
| ENST00000636597.1:c.551-256G>A | ENSP00000490251.1:n.551-256G>A | |
| ENST00000636725.1:n.1594-1G>A | ||
| ENST00000636803.1:n.1220-1G>A | ||
| ENST00000636865.1:c.722-1G>A | ENSP00000490601.1:n.722-1G>A | |
| ENST00000636871.1:n.1243-1G>A | ||
| ENST00000636978.1:n.990-1G>A | ||
| ENST00000636991.1:n.1323-1G>A | ||
| ENST00000637059.1:c.330-1G>A | ENSP00000490153.1:n.330-1G>A | |
| ENST00000637088.1:n.5690-1G>A | ||
| ENST00000637114.1:n.978-1G>A | ||
| ENST00000637268.1:n.1779-1G>A | ||
| ENST00000637291.1:n.1612-1G>A | ||
| ENST00000637442.1:n.3099-1G>A | ||
| ENST00000637455.1:c.689-1G>A | ENSP00000489628.1:n.689-1G>A | |
| ENST00000637457.1:n.1739-1G>A | ||
| ENST00000637527.1:n.169G>A | ||
| ENST00000637682.1:c.878-256G>A | ENSP00000489856.1:n.878-256G>A | |
| ENST00000637684.1:n.1088-1G>A | ||
| ENST00000637821.1:c.*1188-1G>A | ENSP00000490482.1:n.*1188-1G>A | |
| ENST00000637914.1:n.2772-1G>A | ||
| ENST00000637982.1:n.1292-1G>A | ||
| ENST00000637994.1:n.1418-1G>A | ||
| ENST00000638014.1:c.3659-1G>A | ||
| ENST00000638063.1:c.797-1G>A | ENSP00000489760.1:n.797-1G>A | |
| ENST00000638079.1:c.*1390-1G>A | ENSP00000490120.1:n.*1390-1G>A | |
| ENST00000638092.1:n.1398-1G>A | ||
| ENST00000638115.1:c.*2639-1G>A | ENSP00000490296.1:n.*2639-1G>A | |
| ENST00000273588.7:c.878-1G>A | ENSP00000273588.3:n.878-1G>A | |
| ENST00000395338.6:c.878-1G>A | ENSP00000378747.2:n.878-1G>A | |
| ENST00000399379.6:c.*658-1G>A | ENSP00000399943.1:n.*658-1G>A | |
| ENST00000427987.5:c.870-1G>A | ||
| ENST00000430521.1:c.710-1G>A | ENSP00000388068.1:n.710-1G>A | |
| ENST00000458307.6:c.746-1G>A | ENSP00000415619.2:n.746-1G>A | |
| ENST00000465925.5:n.2176-1G>A | ||
| ENST00000473163.1:n.247-1G>A | ||
| ENST00000476127.5:n.637-1G>A | ||
| ENST00000476226.5:n.943-1G>A | ||
| ENST00000495436.5:n.655-256G>A | ||
| ENST00000538581.5:c.710-1G>A | ENSP00000443200.1:n.710-1G>A | |
| NM_000481.3:c.878-1G>A , LRG_537t1:c.878-1G>A | NP_000472.2:n.878-1G>A | |
| NM_001164710.1:c.746-1G>A | NP_001158182.1:n.746-1G>A | |
| NM_001164711.1:c.710-1G>A | NP_001158183.1:n.710-1G>A | |
| NM_001164712.1:c.878-1G>A | NP_001158184.1:n.878-1G>A | |
| NR_028435.1:n.1092-1G>A | ||
| NM_000481.4:c.878-1G>A MANE Select | NP_000472.2:n.878-1G>A | |
| NM_001164710.2:c.746-1G>A | NP_001158182.1:n.746-1G>A | |
| NM_001164711.2:c.710-1G>A | NP_001158183.1:n.710-1G>A | |
| NM_001164712.2:c.878-1G>A | NP_001158184.1:n.878-1G>A | |
| NR_028435.2:n.887-1G>A |