Linked Data
ClinVar Variation Id:
11974
ClinVar RCV Id:
RCV000012754
dbSNP Id:
rs121964981
gnomAD v4:
3-49419042-C-T
PubMed:
PMID:8005589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419042C>T , CM000665.2:g.49419042C>T | GRCh38 |
| NC_000003.11:g.49456475C>T , CM000665.1:g.49456475C>T | GRCh37 |
| NC_000003.10:g.49431479C>T | NCBI36 |
| NG_015986.1:g.8637G>A , LRG_537:g.8637G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273588.9:c.806G>A MANE Select | ENSP00000273588.3:p.Gly269Asp | |
| ENST00000395338.7:c.806G>A | ENSP00000378747.2:p.Gly269Asp | |
| ENST00000399379.7:c.538G>A | ENSP00000399943.2:n.538G>A | |
| ENST00000427987.6:c.662G>A | ENSP00000403821.2:p.Gly221Asp | |
| ENST00000430521.2:c.*608G>A | ENSP00000388068.2:n.*608G>A | |
| ENST00000465925.6:n.2808G>A | ||
| ENST00000473163.2:n.3422G>A | ||
| ENST00000476127.6:n.1035G>A | ||
| ENST00000476226.6:n.1227G>A | ||
| ENST00000476828.2:n.1613G>A | ||
| ENST00000478594.6:n.1233G>A | ||
| ENST00000480957.6:n.2807G>A | ||
| ENST00000487589.6:n.719G>A | ||
| ENST00000491800.3:n.3431G>A | ||
| ENST00000493046.6:n.2749+668G>A | ||
| ENST00000538581.6:c.662G>A | ENSP00000443200.2:p.Gly221Asp | |
| ENST00000635772.1:n.1644G>A | ||
| ENST00000635798.1:n.391+218G>A | ||
| ENST00000635808.1:c.725G>A | ENSP00000489620.1:p.Gly242Asp | |
| ENST00000635889.1:n.1237G>A | ||
| ENST00000635907.1:n.591+218G>A | ||
| ENST00000635936.1:n.1074G>A | ||
| ENST00000636023.1:c.660G>A | ENSP00000489969.1:p.Arg220= | |
| ENST00000636070.1:c.*586G>A | ENSP00000490160.1:n.*586G>A | |
| ENST00000636148.1:n.2859G>A | ||
| ENST00000636166.1:c.1043G>A | ENSP00000490106.1:p.Gly348Asp | |
| ENST00000636199.1:c.368G>A | ENSP00000490871.1:p.Gly123Asp | |
| ENST00000636204.1:n.2088G>A | ||
| ENST00000636461.1:c.4340G>A | ||
| ENST00000636522.1:c.638G>A | ENSP00000489758.1:p.Gly213Asp | |
| ENST00000636587.1:n.892G>A | ||
| ENST00000636597.1:c.550+668G>A | ENSP00000490251.1:n.550+668G>A | |
| ENST00000636725.1:n.1522G>A | ||
| ENST00000636803.1:n.1148G>A | ||
| ENST00000636865.1:c.650G>A | ENSP00000490601.1:p.Gly217Asp | |
| ENST00000636871.1:n.1171G>A | ||
| ENST00000636978.1:n.918G>A | ||
| ENST00000636991.1:n.1251G>A | ||
| ENST00000637059.1:c.258G>A | ENSP00000490153.1:p.Arg86= | |
| ENST00000637088.1:n.5618G>A | ||
| ENST00000637114.1:n.906G>A | ||
| ENST00000637268.1:n.1645G>A | ||
| ENST00000637291.1:n.1540G>A | ||
| ENST00000637442.1:n.3027G>A | ||
| ENST00000637455.1:c.617G>A | ENSP00000489628.1:p.Gly206Asp | |
| ENST00000637457.1:n.1667G>A | ||
| ENST00000637682.1:c.806G>A | ENSP00000489856.1:p.Gly269Asp | |
| ENST00000637684.1:n.1016G>A | ||
| ENST00000637821.1:c.*1116G>A | ENSP00000490482.1:n.*1116G>A | |
| ENST00000637914.1:n.2700G>A | ||
| ENST00000637982.1:n.1220G>A | ||
| ENST00000637994.1:n.1346G>A | ||
| ENST00000638014.1:c.3587G>A | ||
| ENST00000638063.1:c.725G>A | ENSP00000489760.1:p.Gly242Asp | |
| ENST00000638079.1:c.*1318G>A | ENSP00000490120.1:n.*1318G>A | |
| ENST00000638092.1:n.1326G>A | ||
| ENST00000638115.1:c.*2567G>A | ENSP00000490296.1:n.*2567G>A | |
| ENST00000273588.7:c.806G>A | ENSP00000273588.3:p.Gly269Asp | |
| ENST00000395338.6:c.806G>A | ENSP00000378747.2:p.Gly269Asp | |
| ENST00000399379.6:c.*586G>A | ENSP00000399943.1:n.*586G>A | |
| ENST00000427987.5:c.798G>A | ||
| ENST00000430521.1:c.638G>A | ENSP00000388068.1:p.Gly213Asp | |
| ENST00000458307.6:c.674G>A | ENSP00000415619.2:p.Gly225Asp | |
| ENST00000465925.5:n.2104G>A | ||
| ENST00000473163.1:n.175G>A | ||
| ENST00000476127.5:n.565G>A | ||
| ENST00000476226.5:n.871G>A | ||
| ENST00000491800.2:n.364G>A | ||
| ENST00000495436.5:n.654+218G>A | ||
| ENST00000538581.5:c.638G>A | ENSP00000443200.1:p.Gly213Asp | |
| NM_000481.3:c.806G>A , LRG_537t1:c.806G>A | NP_000472.2:p.Gly269Asp | |
| NM_001164710.1:c.674G>A | NP_001158182.1:p.Gly225Asp | |
| NM_001164711.1:c.638G>A | NP_001158183.1:p.Gly213Asp | |
| NM_001164712.1:c.806G>A | NP_001158184.1:p.Gly269Asp | |
| NR_028435.1:n.1020G>A | ||
| NM_000481.4:c.806G>A MANE Select | NP_000472.2:p.Gly269Asp | |
| NM_001164710.2:c.674G>A | NP_001158182.1:p.Gly225Asp | |
| NM_001164711.2:c.638G>A | NP_001158183.1:p.Gly213Asp | |
| NM_001164712.2:c.806G>A | NP_001158184.1:p.Gly269Asp | |
| NR_028435.2:n.815G>A |