Linked Data
ClinVar Variation Id:
462897
dbSNP Id:
rs757293245
ExAC:
3:49455103 G / A
gnomAD v2:
3-49455103-G-A
gnomAD v3:
3-49417670-G-A
gnomAD v4:
3-49417670-G-A
COSMIC:
COSM2849906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417670G>A , CM000665.2:g.49417670G>A | GRCh38 |
| NC_000003.11:g.49455103G>A , CM000665.1:g.49455103G>A | GRCh37 |
| NC_000003.10:g.49430107G>A | NCBI36 |
| NG_015986.1:g.10009C>T , LRG_537:g.10009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.1082C>T MANE Select | ENSP00000273588.3:p.Ala361Val | |
| ENST00000395338.7:c.1082C>T | ENSP00000378747.2:p.Ala361Val | |
| ENST00000399379.7:c.814C>T | ENSP00000399943.2:n.814C>T | |
| ENST00000427987.6:c.938C>T | ENSP00000403821.2:p.Ala313Val | |
| ENST00000465925.6:n.3084C>T | ||
| ENST00000473163.2:n.3698C>T | ||
| ENST00000476127.6:n.1311C>T | ||
| ENST00000476226.6:n.1503C>T | ||
| ENST00000478594.6:n.1509C>T | ||
| ENST00000493046.6:n.2798C>T | ||
| ENST00000538581.6:c.938C>T | ENSP00000443200.2:p.Ala313Val | |
| ENST00000635772.1:n.1920C>T | ||
| ENST00000635798.1:n.440C>T | ||
| ENST00000635808.1:c.1001C>T | ENSP00000489620.1:p.Ala334Val | |
| ENST00000635889.1:n.1575C>T | ||
| ENST00000635907.1:n.640C>T | ||
| ENST00000635936.1:n.1350C>T | ||
| ENST00000636023.1:c.*255C>T | ENSP00000489969.1:n.*255C>T | |
| ENST00000636070.1:c.*862C>T | ENSP00000490160.1:n.*862C>T | |
| ENST00000636148.1:n.3135C>T | ||
| ENST00000636166.1:c.1319C>T | ENSP00000490106.1:p.Ala440Val | |
| ENST00000636188.1:c.261C>T | ||
| ENST00000636199.1:c.644C>T | ENSP00000490871.1:p.Ala215Val | |
| ENST00000636204.1:n.2364C>T | ||
| ENST00000636461.1:c.4616C>T | ||
| ENST00000636522.1:c.914C>T | ENSP00000489758.1:p.Ala305Val | |
| ENST00000636587.1:n.1168C>T | ||
| ENST00000636594.1:n.703C>T | ||
| ENST00000636597.1:c.599C>T | ENSP00000490251.1:p.Ala200Val | |
| ENST00000636725.1:n.1798C>T | ||
| ENST00000636803.1:n.1424C>T | ||
| ENST00000636865.1:c.926C>T | ENSP00000490601.1:p.Ala309Val | |
| ENST00000636871.1:n.1447C>T | ||
| ENST00000636978.1:n.1194C>T | ||
| ENST00000636991.1:n.1527C>T | ||
| ENST00000637059.1:c.534C>T | ENSP00000490153.1:n.534C>T | |
| ENST00000637088.1:n.5894C>T | ||
| ENST00000637114.1:n.1182C>T | ||
| ENST00000637268.1:n.1983C>T | ||
| ENST00000637291.1:n.1816C>T | ||
| ENST00000637442.1:n.3303C>T | ||
| ENST00000637455.1:c.893C>T | ENSP00000489628.1:p.Ala298Val | |
| ENST00000637457.1:n.1943C>T | ||
| ENST00000637527.1:n.374C>T | ||
| ENST00000637682.1:c.926C>T | ENSP00000489856.1:p.Ala309Val | |
| ENST00000637684.1:n.1292C>T | ||
| ENST00000637821.1:c.*1277C>T | ENSP00000490482.1:n.*1277C>T | |
| ENST00000637914.1:n.2976C>T | ||
| ENST00000637982.1:n.1496C>T | ||
| ENST00000637994.1:n.1622C>T | ||
| ENST00000638014.1:c.3863C>T | ||
| ENST00000638063.1:c.1001C>T | ENSP00000489760.1:p.Ala334Val | |
| ENST00000638079.1:c.*1594C>T | ENSP00000490120.1:n.*1594C>T | |
| ENST00000638092.1:n.1602C>T | ||
| ENST00000638115.1:c.*2843C>T | ENSP00000490296.1:n.*2843C>T | |
| ENST00000273588.7:c.1082C>T | ENSP00000273588.3:p.Ala361Val | |
| ENST00000395338.6:c.1082C>T | ENSP00000378747.2:p.Ala361Val | |
| ENST00000399379.6:c.*862C>T | ENSP00000399943.1:n.*862C>T | |
| ENST00000427987.5:c.1074C>T | ||
| ENST00000458307.6:c.950C>T | ENSP00000415619.2:p.Ala317Val | |
| ENST00000465925.5:n.2380C>T | ||
| ENST00000476127.5:n.841C>T | ||
| ENST00000476226.5:n.1147C>T | ||
| ENST00000495436.5:n.703C>T | ||
| ENST00000538581.5:c.914C>T | ENSP00000443200.1:p.Ala305Val | |
| NM_000481.3:c.1082C>T , LRG_537t1:c.1082C>T | NP_000472.2:p.Ala361Val | |
| NM_001164710.1:c.950C>T | NP_001158182.1:p.Ala317Val | |
| NM_001164711.1:c.914C>T | NP_001158183.1:p.Ala305Val | |
| NM_001164712.1:c.1082C>T | NP_001158184.1:p.Ala361Val | |
| NR_028435.1:n.1296C>T | ||
| NM_000481.4:c.1082C>T MANE Select | NP_000472.2:p.Ala361Val | |
| NM_001164710.2:c.950C>T | NP_001158182.1:p.Ala317Val | |
| NM_001164711.2:c.914C>T | NP_001158183.1:p.Ala305Val | |
| NM_001164712.2:c.1082C>T | NP_001158184.1:p.Ala361Val | |
| NR_028435.2:n.1091C>T |