Linked Data
ClinVar Variation Id:
968055
dbSNP Id:
rs553122824
ExAC:
11:6637732 G / A
gnomAD v2:
11-6637732-G-A
gnomAD v3:
11-6616501-G-A
gnomAD v4:
11-6616501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616501G>A , CM000673.2:g.6616501G>A | GRCh38 |
| NC_000011.9:g.6637732G>A , CM000673.1:g.6637732G>A | GRCh37 |
| NC_000011.8:g.6594308G>A | NCBI36 |
| NG_008653.1:g.7961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.775C>T | ENSP00000507321.1:p.Arg259Trp | |
| ENST00000299427.12:c.889C>T MANE Select | ENSP00000299427.6:p.Arg297Trp | |
| ENST00000436873.7:c.313-427C>T | ||
| ENST00000530040.2:n.482C>T | ||
| ENST00000533371.6:c.160C>T | ENSP00000437066.1:p.Arg54Trp | |
| ENST00000642892.1:c.160C>T | ENSP00000494165.1:p.Arg54Trp | |
| ENST00000643439.1:c.*629C>T | ENSP00000495849.1:n.*629C>T | |
| ENST00000643479.1:n.1075C>T | ||
| ENST00000643516.1:c.398C>T | ||
| ENST00000644218.1:c.886+160C>T | ENSP00000493574.1:n.886+160C>T | |
| ENST00000644683.1:c.*342C>T | ENSP00000494085.1:n.*342C>T | |
| ENST00000644810.1:c.610C>T | ENSP00000495895.1:p.Arg204Trp | |
| ENST00000644831.1:n.1065C>T | ||
| ENST00000644933.1:c.160C>T | ENSP00000496133.1:p.Arg54Trp | |
| ENST00000645285.1:c.157+160C>T | ENSP00000495058.1:n.157+160C>T | |
| ENST00000645331.1:n.1412C>T | ||
| ENST00000645620.1:c.160C>T | ENSP00000493657.1:p.Arg54Trp | |
| ENST00000646777.1:n.1222C>T | ||
| ENST00000647016.1:n.1369C>T | ||
| ENST00000647152.1:c.160C>T | ENSP00000495893.1:p.Arg54Trp | |
| ENST00000647209.1:c.*758C>T | ENSP00000495558.1:n.*758C>T | |
| ENST00000647346.1:n.1909C>T | ||
| ENST00000299427.10:c.889C>T | ENSP00000299427.6:p.Arg297Trp | |
| ENST00000436873.6:c.453C>T | ENSP00000398136.2:p.Ala151= | |
| ENST00000533371.5:c.160C>T | ENSP00000437066.1:p.Arg54Trp | |
| ENST00000611494.4:c.889C>T | ENSP00000484546.1:p.Arg297Trp | |
| NM_000391.3:c.889C>T | NP_000382.3:p.Arg297Trp | |
| NM_000391.4:c.889C>T MANE Select | NP_000382.3:p.Arg297Trp |