Linked Data
dbSNP Id:
rs1461824919
gnomAD v2:
11-6637708-G-A
gnomAD v3:
11-6616477-G-A
gnomAD v4:
11-6616477-G-A
COSMIC:
COSM4735602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616477G>A , CM000673.2:g.6616477G>A | GRCh38 |
| NC_000011.9:g.6637708G>A , CM000673.1:g.6637708G>A | GRCh37 |
| NC_000011.8:g.6594284G>A | NCBI36 |
| NG_008653.1:g.7985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.799C>T | ENSP00000507321.1:p.Leu267= | |
| ENST00000299427.12:c.913C>T MANE Select | ENSP00000299427.6:p.Leu305= | |
| ENST00000436873.7:c.313-403C>T | ||
| ENST00000530040.2:n.506C>T | ||
| ENST00000533371.6:c.184C>T | ENSP00000437066.1:p.Leu62= | |
| ENST00000642892.1:c.184C>T | ENSP00000494165.1:p.Leu62= | |
| ENST00000643342.1:c.3C>T | ||
| ENST00000643439.1:c.*653C>T | ENSP00000495849.1:n.*653C>T | |
| ENST00000643479.1:n.1099C>T | ||
| ENST00000643516.1:c.422C>T | ||
| ENST00000644218.1:c.886+184C>T | ENSP00000493574.1:n.886+184C>T | |
| ENST00000644683.1:c.*366C>T | ENSP00000494085.1:n.*366C>T | |
| ENST00000644810.1:c.634C>T | ENSP00000495895.1:p.Leu212= | |
| ENST00000644831.1:n.1089C>T | ||
| ENST00000644933.1:c.184C>T | ENSP00000496133.1:p.Leu62= | |
| ENST00000645285.1:c.157+184C>T | ENSP00000495058.1:n.157+184C>T | |
| ENST00000645331.1:n.1436C>T | ||
| ENST00000645620.1:c.184C>T | ENSP00000493657.1:p.Leu62= | |
| ENST00000646691.1:n.6C>T | ||
| ENST00000646777.1:n.1246C>T | ||
| ENST00000647016.1:n.1393C>T | ||
| ENST00000647152.1:c.184C>T | ENSP00000495893.1:p.Leu62= | |
| ENST00000647209.1:c.*782C>T | ENSP00000495558.1:n.*782C>T | |
| ENST00000647346.1:n.1933C>T | ||
| ENST00000299427.10:c.913C>T | ENSP00000299427.6:p.Leu305= | |
| ENST00000436873.6:c.477C>T | ENSP00000398136.2:p.Ser159= | |
| ENST00000533371.5:c.184C>T | ENSP00000437066.1:p.Leu62= | |
| ENST00000611494.4:c.913C>T | ENSP00000484546.1:p.Leu305= | |
| NM_000391.3:c.913C>T | NP_000382.3:p.Leu305= | |
| NM_000391.4:c.913C>T MANE Select | NP_000382.3:p.Leu305= |