Linked Data
ClinVar Variation Id:
11980
ClinVar RCV Id:
RCV000012760
dbSNP Id:
rs121964986
gnomAD v2:
3-49456815-G-A
gnomAD v4:
3-49419382-G-A
PubMed:
PMID:10873393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419382G>A , CM000665.2:g.49419382G>A | GRCh38 |
| NC_000003.11:g.49456815G>A , CM000665.1:g.49456815G>A | GRCh37 |
| NC_000003.10:g.49431819G>A | NCBI36 |
| NG_015986.1:g.8297C>T , LRG_537:g.8297C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273588.9:c.574C>T MANE Select | ENSP00000273588.3:p.Gln192Ter | |
| ENST00000395338.7:c.574C>T | ENSP00000378747.2:p.Gln192Ter | |
| ENST00000399379.7:c.353-47C>T | ENSP00000399943.2:n.353-47C>T | |
| ENST00000427987.6:c.430C>T | ENSP00000403821.2:p.Gln144Ter | |
| ENST00000430521.2:c.*376C>T | ENSP00000388068.2:n.*376C>T | |
| ENST00000465925.6:n.2468C>T | ||
| ENST00000473163.2:n.3082C>T | ||
| ENST00000476127.6:n.850-47C>T | ||
| ENST00000476226.6:n.995C>T | ||
| ENST00000476828.2:n.1273C>T | ||
| ENST00000478594.6:n.1001C>T | ||
| ENST00000480957.6:n.2467C>T | ||
| ENST00000487589.6:n.487C>T | ||
| ENST00000491800.3:n.3091C>T | ||
| ENST00000493046.6:n.2749+328C>T | ||
| ENST00000538581.6:c.430C>T | ENSP00000443200.2:p.Gln144Ter | |
| ENST00000635772.1:n.1304C>T | ||
| ENST00000635798.1:n.269C>T | ||
| ENST00000635808.1:c.493C>T | ENSP00000489620.1:p.Gln165Ter | |
| ENST00000635889.1:n.1005C>T | ||
| ENST00000635907.1:n.469C>T | ||
| ENST00000635936.1:n.965-231C>T | ||
| ENST00000636023.1:c.551-231C>T | ENSP00000489969.1:n.551-231C>T | |
| ENST00000636070.1:c.*354C>T | ENSP00000490160.1:n.*354C>T | |
| ENST00000636148.1:n.2519C>T | ||
| ENST00000636166.1:c.811C>T | ENSP00000490106.1:p.Gln271Ter | |
| ENST00000636199.1:c.259-231C>T | ENSP00000490871.1:n.259-231C>T | |
| ENST00000636204.1:n.1856C>T | ||
| ENST00000636461.1:c.4108C>T | ||
| ENST00000636522.1:c.406C>T | ENSP00000489758.1:p.Gln136Ter | |
| ENST00000636587.1:n.783-231C>T | ||
| ENST00000636597.1:c.550+328C>T | ENSP00000490251.1:n.550+328C>T | |
| ENST00000636725.1:n.1290C>T | ||
| ENST00000636803.1:n.963-47C>T | ||
| ENST00000636865.1:c.418C>T | ENSP00000490601.1:p.Gln140Ter | |
| ENST00000636871.1:n.939C>T | ||
| ENST00000636978.1:n.578C>T | ||
| ENST00000636991.1:n.1019C>T | ||
| ENST00000637059.1:c.149-231C>T | ENSP00000490153.1:n.149-231C>T | |
| ENST00000637088.1:n.5386C>T | ||
| ENST00000637114.1:n.566C>T | ||
| ENST00000637268.1:n.1305C>T | ||
| ENST00000637291.1:n.1308C>T | ||
| ENST00000637442.1:n.2795C>T | ||
| ENST00000637455.1:c.385C>T | ENSP00000489628.1:p.Gln129Ter | |
| ENST00000637457.1:n.1327C>T | ||
| ENST00000637682.1:c.574C>T | ENSP00000489856.1:p.Gln192Ter | |
| ENST00000637684.1:n.676C>T | ||
| ENST00000637821.1:c.*776C>T | ENSP00000490482.1:n.*776C>T | |
| ENST00000637914.1:n.2468C>T | ||
| ENST00000637982.1:n.988C>T | ||
| ENST00000637994.1:n.1006C>T | ||
| ENST00000638014.1:c.3355C>T | ||
| ENST00000638063.1:c.493C>T | ENSP00000489760.1:p.Gln165Ter | |
| ENST00000638079.1:c.*1086C>T | ENSP00000490120.1:n.*1086C>T | |
| ENST00000638092.1:n.986C>T | ||
| ENST00000638115.1:c.*2335C>T | ENSP00000490296.1:n.*2335C>T | |
| ENST00000273588.7:c.574C>T | ENSP00000273588.3:p.Gln192Ter | |
| ENST00000395338.6:c.574C>T | ENSP00000378747.2:p.Gln192Ter | |
| ENST00000399379.6:c.*354C>T | ENSP00000399943.1:n.*354C>T | |
| ENST00000427987.5:c.566C>T | ||
| ENST00000430521.1:c.406C>T | ENSP00000388068.1:p.Gln136Ter | |
| ENST00000458307.6:c.442C>T | ENSP00000415619.2:p.Gln148Ter | |
| ENST00000461210.1:n.756C>T | ||
| ENST00000465925.5:n.1764C>T | ||
| ENST00000476127.5:n.333C>T | ||
| ENST00000476226.5:n.639C>T | ||
| ENST00000478594.5:n.990C>T | ||
| ENST00000487589.5:n.676C>T | ||
| ENST00000491800.2:n.24C>T | ||
| ENST00000495436.5:n.532C>T | ||
| ENST00000538581.5:c.406C>T | ENSP00000443200.1:p.Gln136Ter | |
| NM_000481.3:c.574C>T , LRG_537t1:c.574C>T | NP_000472.2:p.Gln192Ter | |
| NM_001164710.1:c.442C>T | NP_001158182.1:p.Gln148Ter | |
| NM_001164711.1:c.406C>T | NP_001158183.1:p.Gln136Ter | |
| NM_001164712.1:c.574C>T | NP_001158184.1:p.Gln192Ter | |
| NR_028435.1:n.788C>T | ||
| NM_000481.4:c.574C>T MANE Select | NP_000472.2:p.Gln192Ter | |
| NM_001164710.2:c.442C>T | NP_001158182.1:p.Gln148Ter | |
| NM_001164711.2:c.406C>T | NP_001158183.1:p.Gln136Ter | |
| NM_001164712.2:c.574C>T | NP_001158184.1:p.Gln192Ter | |
| NR_028435.2:n.583C>T |