Linked Data
ClinVar Variation Id:
1529054
ClinVar RCV Id:
RCV002096919
dbSNP Id:
rs1267077821
gnomAD v2:
11-6637672-G-A
gnomAD v4:
11-6616441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616441G>A , CM000673.2:g.6616441G>A | GRCh38 |
| NC_000011.9:g.6637672G>A , CM000673.1:g.6637672G>A | GRCh37 |
| NC_000011.8:g.6594248G>A | NCBI36 |
| NG_008653.1:g.8021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.835C>T | ENSP00000507321.1:p.Leu279= | |
| ENST00000299427.12:c.949C>T MANE Select | ENSP00000299427.6:p.Leu317= | |
| ENST00000436873.7:c.313-367C>T | ||
| ENST00000530040.2:n.542C>T | ||
| ENST00000533371.6:c.220C>T | ENSP00000437066.1:p.Leu74= | |
| ENST00000642892.1:c.220C>T | ENSP00000494165.1:p.Leu74= | |
| ENST00000643342.1:c.39C>T | ||
| ENST00000643439.1:c.*689C>T | ENSP00000495849.1:n.*689C>T | |
| ENST00000643479.1:n.1135C>T | ||
| ENST00000643516.1:c.458C>T | ||
| ENST00000644218.1:c.886+220C>T | ENSP00000493574.1:n.886+220C>T | |
| ENST00000644683.1:c.*402C>T | ENSP00000494085.1:n.*402C>T | |
| ENST00000644810.1:c.670C>T | ENSP00000495895.1:p.Leu224= | |
| ENST00000644831.1:n.1125C>T | ||
| ENST00000644933.1:c.220C>T | ENSP00000496133.1:p.Leu74= | |
| ENST00000645285.1:c.157+220C>T | ENSP00000495058.1:n.157+220C>T | |
| ENST00000645331.1:n.1472C>T | ||
| ENST00000645620.1:c.220C>T | ENSP00000493657.1:p.Leu74= | |
| ENST00000646691.1:n.42C>T | ||
| ENST00000646777.1:n.1282C>T | ||
| ENST00000647016.1:n.1429C>T | ||
| ENST00000647152.1:c.220C>T | ENSP00000495893.1:p.Leu74= | |
| ENST00000647209.1:c.*818C>T | ENSP00000495558.1:n.*818C>T | |
| ENST00000647346.1:n.1969C>T | ||
| ENST00000299427.10:c.949C>T | ENSP00000299427.6:p.Leu317= | |
| ENST00000436873.6:c.513C>T | ENSP00000398136.2:p.Pro171= | |
| ENST00000533371.5:c.220C>T | ENSP00000437066.1:p.Leu74= | |
| ENST00000611494.4:c.949C>T | ENSP00000484546.1:p.Leu317= | |
| NM_000391.3:c.949C>T | NP_000382.3:p.Leu317= | |
| NM_000391.4:c.949C>T MANE Select | NP_000382.3:p.Leu317= |