Linked Data
dbSNP Id:
rs755979490
ExAC:
3:49455420 C / T
gnomAD v2:
3-49455420-C-T
gnomAD v4:
3-49417987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417987C>T , CM000665.2:g.49417987C>T | GRCh38 |
| NC_000003.11:g.49455420C>T , CM000665.1:g.49455420C>T | GRCh37 |
| NC_000003.10:g.49430424C>T | NCBI36 |
| NG_015986.1:g.9692G>A , LRG_537:g.9692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.878-14G>A MANE Select | ENSP00000273588.3:n.878-14G>A | |
| ENST00000395338.7:c.878-14G>A | ENSP00000378747.2:n.878-14G>A | |
| ENST00000399379.7:c.610-14G>A | ENSP00000399943.2:n.610-14G>A | |
| ENST00000427987.6:c.734-14G>A | ENSP00000403821.2:n.734-14G>A | |
| ENST00000465925.6:n.2880-14G>A | ||
| ENST00000473163.2:n.3494-14G>A | ||
| ENST00000476127.6:n.1107-14G>A | ||
| ENST00000476226.6:n.1299-14G>A | ||
| ENST00000478594.6:n.1305-14G>A | ||
| ENST00000493046.6:n.2750-269G>A | ||
| ENST00000538581.6:c.734-14G>A | ENSP00000443200.2:n.734-14G>A | |
| ENST00000635772.1:n.1716-14G>A | ||
| ENST00000635798.1:n.392-269G>A | ||
| ENST00000635808.1:c.797-14G>A | ENSP00000489620.1:n.797-14G>A | |
| ENST00000635889.1:n.1371-14G>A | ||
| ENST00000635907.1:n.592-269G>A | ||
| ENST00000635936.1:n.1146-14G>A | ||
| ENST00000636023.1:c.*51-14G>A | ENSP00000489969.1:n.*51-14G>A | |
| ENST00000636070.1:c.*658-14G>A | ENSP00000490160.1:n.*658-14G>A | |
| ENST00000636148.1:n.2931-14G>A | ||
| ENST00000636166.1:c.1115-14G>A | ENSP00000490106.1:n.1115-14G>A | |
| ENST00000636188.1:c.57-14G>A | ||
| ENST00000636199.1:c.440-14G>A | ENSP00000490871.1:n.440-14G>A | |
| ENST00000636204.1:n.2160-14G>A | ||
| ENST00000636461.1:c.4412-14G>A | ||
| ENST00000636522.1:c.710-14G>A | ENSP00000489758.1:n.710-14G>A | |
| ENST00000636587.1:n.964-14G>A | ||
| ENST00000636594.1:n.386G>A | ||
| ENST00000636597.1:c.551-269G>A | ENSP00000490251.1:n.551-269G>A | |
| ENST00000636725.1:n.1594-14G>A | ||
| ENST00000636803.1:n.1220-14G>A | ||
| ENST00000636865.1:c.722-14G>A | ENSP00000490601.1:n.722-14G>A | |
| ENST00000636871.1:n.1243-14G>A | ||
| ENST00000636978.1:n.990-14G>A | ||
| ENST00000636991.1:n.1323-14G>A | ||
| ENST00000637059.1:c.330-14G>A | ENSP00000490153.1:n.330-14G>A | |
| ENST00000637088.1:n.5690-14G>A | ||
| ENST00000637114.1:n.978-14G>A | ||
| ENST00000637268.1:n.1779-14G>A | ||
| ENST00000637291.1:n.1612-14G>A | ||
| ENST00000637442.1:n.3099-14G>A | ||
| ENST00000637455.1:c.689-14G>A | ENSP00000489628.1:n.689-14G>A | |
| ENST00000637457.1:n.1739-14G>A | ||
| ENST00000637527.1:n.156G>A | ||
| ENST00000637682.1:c.878-269G>A | ENSP00000489856.1:n.878-269G>A | |
| ENST00000637684.1:n.1088-14G>A | ||
| ENST00000637821.1:c.*1188-14G>A | ENSP00000490482.1:n.*1188-14G>A | |
| ENST00000637914.1:n.2772-14G>A | ||
| ENST00000637982.1:n.1292-14G>A | ||
| ENST00000637994.1:n.1418-14G>A | ||
| ENST00000638014.1:c.3659-14G>A | ||
| ENST00000638063.1:c.797-14G>A | ENSP00000489760.1:n.797-14G>A | |
| ENST00000638079.1:c.*1390-14G>A | ENSP00000490120.1:n.*1390-14G>A | |
| ENST00000638092.1:n.1398-14G>A | ||
| ENST00000638115.1:c.*2639-14G>A | ENSP00000490296.1:n.*2639-14G>A | |
| ENST00000273588.7:c.878-14G>A | ENSP00000273588.3:n.878-14G>A | |
| ENST00000395338.6:c.878-14G>A | ENSP00000378747.2:n.878-14G>A | |
| ENST00000399379.6:c.*658-14G>A | ENSP00000399943.1:n.*658-14G>A | |
| ENST00000427987.5:c.870-14G>A | ||
| ENST00000430521.1:c.710-14G>A | ENSP00000388068.1:n.710-14G>A | |
| ENST00000458307.6:c.746-14G>A | ENSP00000415619.2:n.746-14G>A | |
| ENST00000465925.5:n.2176-14G>A | ||
| ENST00000473163.1:n.247-14G>A | ||
| ENST00000476127.5:n.637-14G>A | ||
| ENST00000476226.5:n.943-14G>A | ||
| ENST00000495436.5:n.655-269G>A | ||
| ENST00000538581.5:c.710-14G>A | ENSP00000443200.1:n.710-14G>A | |
| NM_000481.3:c.878-14G>A , LRG_537t1:c.878-14G>A | NP_000472.2:n.878-14G>A | |
| NM_001164710.1:c.746-14G>A | NP_001158182.1:n.746-14G>A | |
| NM_001164711.1:c.710-14G>A | NP_001158183.1:n.710-14G>A | |
| NM_001164712.1:c.878-14G>A | NP_001158184.1:n.878-14G>A | |
| NR_028435.1:n.1092-14G>A | ||
| NM_000481.4:c.878-14G>A MANE Select | NP_000472.2:n.878-14G>A | |
| NM_001164710.2:c.746-14G>A | NP_001158182.1:n.746-14G>A | |
| NM_001164711.2:c.710-14G>A | NP_001158183.1:n.710-14G>A | |
| NM_001164712.2:c.878-14G>A | NP_001158184.1:n.878-14G>A | |
| NR_028435.2:n.887-14G>A |