Linked Data
ClinVar Variation Id:
56239
dbSNP Id:
rs386833690
ExAC:
3:49455397 C / T
gnomAD v2:
3-49455397-C-T
gnomAD v4:
3-49417964-C-T
PubMed:
PMID:12948742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417964C>T , CM000665.2:g.49417964C>T | GRCh38 |
| NC_000003.11:g.49455397C>T , CM000665.1:g.49455397C>T | GRCh37 |
| NC_000003.10:g.49430401C>T | NCBI36 |
| NG_015986.1:g.9715G>A , LRG_537:g.9715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.887G>A MANE Select | ENSP00000273588.3:p.Arg296His | |
| ENST00000395338.7:c.887G>A | ENSP00000378747.2:p.Arg296His | |
| ENST00000399379.7:c.619G>A | ENSP00000399943.2:n.619G>A | |
| ENST00000427987.6:c.743G>A | ENSP00000403821.2:p.Arg248His | |
| ENST00000465925.6:n.2889G>A | ||
| ENST00000473163.2:n.3503G>A | ||
| ENST00000476127.6:n.1116G>A | ||
| ENST00000476226.6:n.1308G>A | ||
| ENST00000478594.6:n.1314G>A | ||
| ENST00000493046.6:n.2750-246G>A | ||
| ENST00000538581.6:c.743G>A | ENSP00000443200.2:p.Arg248His | |
| ENST00000635772.1:n.1725G>A | ||
| ENST00000635798.1:n.392-246G>A | ||
| ENST00000635808.1:c.806G>A | ENSP00000489620.1:p.Arg269His | |
| ENST00000635889.1:n.1380G>A | ||
| ENST00000635907.1:n.592-246G>A | ||
| ENST00000635936.1:n.1155G>A | ||
| ENST00000636023.1:c.*60G>A | ENSP00000489969.1:n.*60G>A | |
| ENST00000636070.1:c.*667G>A | ENSP00000490160.1:n.*667G>A | |
| ENST00000636148.1:n.2940G>A | ||
| ENST00000636166.1:c.1124G>A | ENSP00000490106.1:p.Arg375His | |
| ENST00000636188.1:c.66G>A | ||
| ENST00000636199.1:c.449G>A | ENSP00000490871.1:p.Arg150His | |
| ENST00000636204.1:n.2169G>A | ||
| ENST00000636461.1:c.4421G>A | ||
| ENST00000636522.1:c.719G>A | ENSP00000489758.1:p.Arg240His | |
| ENST00000636587.1:n.973G>A | ||
| ENST00000636594.1:n.409G>A | ||
| ENST00000636597.1:c.551-246G>A | ENSP00000490251.1:n.551-246G>A | |
| ENST00000636725.1:n.1603G>A | ||
| ENST00000636803.1:n.1229G>A | ||
| ENST00000636865.1:c.731G>A | ENSP00000490601.1:p.Arg244His | |
| ENST00000636871.1:n.1252G>A | ||
| ENST00000636978.1:n.999G>A | ||
| ENST00000636991.1:n.1332G>A | ||
| ENST00000637059.1:c.339G>A | ENSP00000490153.1:n.339G>A | |
| ENST00000637088.1:n.5699G>A | ||
| ENST00000637114.1:n.987G>A | ||
| ENST00000637268.1:n.1788G>A | ||
| ENST00000637291.1:n.1621G>A | ||
| ENST00000637442.1:n.3108G>A | ||
| ENST00000637455.1:c.698G>A | ENSP00000489628.1:p.Arg233His | |
| ENST00000637457.1:n.1748G>A | ||
| ENST00000637527.1:n.179G>A | ||
| ENST00000637682.1:c.878-246G>A | ENSP00000489856.1:n.878-246G>A | |
| ENST00000637684.1:n.1097G>A | ||
| ENST00000637821.1:c.*1197G>A | ENSP00000490482.1:n.*1197G>A | |
| ENST00000637914.1:n.2781G>A | ||
| ENST00000637982.1:n.1301G>A | ||
| ENST00000637994.1:n.1427G>A | ||
| ENST00000638014.1:c.3668G>A | ||
| ENST00000638063.1:c.806G>A | ENSP00000489760.1:p.Arg269His | |
| ENST00000638079.1:c.*1399G>A | ENSP00000490120.1:n.*1399G>A | |
| ENST00000638092.1:n.1407G>A | ||
| ENST00000638115.1:c.*2648G>A | ENSP00000490296.1:n.*2648G>A | |
| ENST00000273588.7:c.887G>A | ENSP00000273588.3:p.Arg296His | |
| ENST00000395338.6:c.887G>A | ENSP00000378747.2:p.Arg296His | |
| ENST00000399379.6:c.*667G>A | ENSP00000399943.1:n.*667G>A | |
| ENST00000427987.5:c.879G>A | ||
| ENST00000430521.1:c.719G>A | ENSP00000388068.1:p.Arg240His | |
| ENST00000458307.6:c.755G>A | ENSP00000415619.2:p.Arg252His | |
| ENST00000465925.5:n.2185G>A | ||
| ENST00000473163.1:n.256G>A | ||
| ENST00000476127.5:n.646G>A | ||
| ENST00000476226.5:n.952G>A | ||
| ENST00000495436.5:n.655-246G>A | ||
| ENST00000538581.5:c.719G>A | ENSP00000443200.1:p.Arg240His | |
| NM_000481.3:c.887G>A , LRG_537t1:c.887G>A | NP_000472.2:p.Arg296His | |
| NM_001164710.1:c.755G>A | NP_001158182.1:p.Arg252His | |
| NM_001164711.1:c.719G>A | NP_001158183.1:p.Arg240His | |
| NM_001164712.1:c.887G>A | NP_001158184.1:p.Arg296His | |
| NR_028435.1:n.1101G>A | ||
| NM_000481.4:c.887G>A MANE Select | NP_000472.2:p.Arg296His | |
| NM_001164710.2:c.755G>A | NP_001158182.1:p.Arg252His | |
| NM_001164711.2:c.719G>A | NP_001158183.1:p.Arg240His | |
| NM_001164712.2:c.887G>A | NP_001158184.1:p.Arg296His | |
| NR_028435.2:n.896G>A |