Linked Data
ClinVar Variation Id:
346031
ClinVar RCV Id:
RCV000373179
dbSNP Id:
rs144241950
ExAC:
3:49456456 A / T
gnomAD v2:
3-49456456-A-T
gnomAD v3:
3-49419023-A-T
gnomAD v4:
3-49419023-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419023A>T , CM000665.2:g.49419023A>T | GRCh38 |
| NC_000003.11:g.49456456A>T , CM000665.1:g.49456456A>T | GRCh37 |
| NC_000003.10:g.49431460A>T | NCBI36 |
| NG_015986.1:g.8656T>A , LRG_537:g.8656T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.825T>A MANE Select | ENSP00000273588.3:p.Asn275Lys | |
| ENST00000395338.7:c.825T>A | ENSP00000378747.2:p.Asn275Lys | |
| ENST00000399379.7:c.557T>A | ENSP00000399943.2:n.557T>A | |
| ENST00000427987.6:c.681T>A | ENSP00000403821.2:p.Asn227Lys | |
| ENST00000430521.2:c.*627T>A | ENSP00000388068.2:n.*627T>A | |
| ENST00000465925.6:n.2827T>A | ||
| ENST00000473163.2:n.3441T>A | ||
| ENST00000476127.6:n.1054T>A | ||
| ENST00000476226.6:n.1246T>A | ||
| ENST00000476828.2:n.1632T>A | ||
| ENST00000478594.6:n.1252T>A | ||
| ENST00000480957.6:n.2826T>A | ||
| ENST00000487589.6:n.738T>A | ||
| ENST00000491800.3:n.3450T>A | ||
| ENST00000493046.6:n.2749+687T>A | ||
| ENST00000538581.6:c.681T>A | ENSP00000443200.2:p.Asn227Lys | |
| ENST00000635772.1:n.1663T>A | ||
| ENST00000635798.1:n.391+237T>A | ||
| ENST00000635808.1:c.744T>A | ENSP00000489620.1:p.Asn248Lys | |
| ENST00000635889.1:n.1256T>A | ||
| ENST00000635907.1:n.591+237T>A | ||
| ENST00000635936.1:n.1093T>A | ||
| ENST00000636023.1:c.679T>A | ENSP00000489969.1:p.Ter227Arg | |
| ENST00000636070.1:c.*605T>A | ENSP00000490160.1:n.*605T>A | |
| ENST00000636148.1:n.2878T>A | ||
| ENST00000636166.1:c.1062T>A | ENSP00000490106.1:p.Asn354Lys | |
| ENST00000636188.1:c.4T>A | ||
| ENST00000636199.1:c.387T>A | ENSP00000490871.1:p.Asn129Lys | |
| ENST00000636204.1:n.2107T>A | ||
| ENST00000636461.1:c.4359T>A | ||
| ENST00000636522.1:c.657T>A | ENSP00000489758.1:p.Asn219Lys | |
| ENST00000636587.1:n.911T>A | ||
| ENST00000636597.1:c.550+687T>A | ENSP00000490251.1:n.550+687T>A | |
| ENST00000636725.1:n.1541T>A | ||
| ENST00000636803.1:n.1167T>A | ||
| ENST00000636865.1:c.669T>A | ENSP00000490601.1:p.Asn223Lys | |
| ENST00000636871.1:n.1190T>A | ||
| ENST00000636978.1:n.937T>A | ||
| ENST00000636991.1:n.1270T>A | ||
| ENST00000637059.1:c.277T>A | ENSP00000490153.1:p.Ter93Arg | |
| ENST00000637088.1:n.5637T>A | ||
| ENST00000637114.1:n.925T>A | ||
| ENST00000637268.1:n.1664T>A | ||
| ENST00000637291.1:n.1559T>A | ||
| ENST00000637442.1:n.3046T>A | ||
| ENST00000637455.1:c.636T>A | ENSP00000489628.1:p.Asn212Lys | |
| ENST00000637457.1:n.1686T>A | ||
| ENST00000637682.1:c.825T>A | ENSP00000489856.1:p.Asn275Lys | |
| ENST00000637684.1:n.1035T>A | ||
| ENST00000637821.1:c.*1135T>A | ENSP00000490482.1:n.*1135T>A | |
| ENST00000637914.1:n.2719T>A | ||
| ENST00000637982.1:n.1239T>A | ||
| ENST00000637994.1:n.1365T>A | ||
| ENST00000638014.1:c.3606T>A | ||
| ENST00000638063.1:c.744T>A | ENSP00000489760.1:p.Asn248Lys | |
| ENST00000638079.1:c.*1337T>A | ENSP00000490120.1:n.*1337T>A | |
| ENST00000638092.1:n.1345T>A | ||
| ENST00000638115.1:c.*2586T>A | ENSP00000490296.1:n.*2586T>A | |
| ENST00000273588.7:c.825T>A | ENSP00000273588.3:p.Asn275Lys | |
| ENST00000395338.6:c.825T>A | ENSP00000378747.2:p.Asn275Lys | |
| ENST00000399379.6:c.*605T>A | ENSP00000399943.1:n.*605T>A | |
| ENST00000427987.5:c.817T>A | ||
| ENST00000430521.1:c.657T>A | ENSP00000388068.1:p.Asn219Lys | |
| ENST00000458307.6:c.693T>A | ENSP00000415619.2:p.Asn231Lys | |
| ENST00000465925.5:n.2123T>A | ||
| ENST00000473163.1:n.194T>A | ||
| ENST00000476127.5:n.584T>A | ||
| ENST00000476226.5:n.890T>A | ||
| ENST00000491800.2:n.383T>A | ||
| ENST00000495436.5:n.654+237T>A | ||
| ENST00000538581.5:c.657T>A | ENSP00000443200.1:p.Asn219Lys | |
| NM_000481.3:c.825T>A , LRG_537t1:c.825T>A | NP_000472.2:p.Asn275Lys | |
| NM_001164710.1:c.693T>A | NP_001158182.1:p.Asn231Lys | |
| NM_001164711.1:c.657T>A | NP_001158183.1:p.Asn219Lys | |
| NM_001164712.1:c.825T>A | NP_001158184.1:p.Asn275Lys | |
| NR_028435.1:n.1039T>A | ||
| NM_000481.4:c.825T>A MANE Select | NP_000472.2:p.Asn275Lys | |
| NM_001164710.2:c.693T>A | NP_001158182.1:p.Asn231Lys | |
| NM_001164711.2:c.657T>A | NP_001158183.1:p.Asn219Lys | |
| NM_001164712.2:c.825T>A | NP_001158184.1:p.Asn275Lys | |
| NR_028435.2:n.834T>A |