Linked Data
ClinVar Variation Id:
207586
dbSNP Id:
rs750428882
ExAC:
11:6637606 G / A
gnomAD v2:
11-6637606-G-A
gnomAD v4:
11-6616375-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616375G>A , CM000673.2:g.6616375G>A | GRCh38 |
| NC_000011.9:g.6637606G>A , CM000673.1:g.6637606G>A | GRCh37 |
| NC_000011.8:g.6594182G>A | NCBI36 |
| NG_008653.1:g.8087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.901C>T | ENSP00000507321.1:p.Arg301Trp | |
| ENST00000299427.12:c.1015C>T MANE Select | ENSP00000299427.6:p.Arg339Trp | |
| ENST00000436873.7:c.313-301C>T | ||
| ENST00000533371.6:c.286C>T | ENSP00000437066.1:p.Arg96Trp | |
| ENST00000642892.1:c.286C>T | ENSP00000494165.1:p.Arg96Trp | |
| ENST00000643342.1:c.105C>T | ||
| ENST00000643439.1:c.*755C>T | ENSP00000495849.1:n.*755C>T | |
| ENST00000643479.1:n.1201C>T | ||
| ENST00000643516.1:c.524C>T | ||
| ENST00000644218.1:c.886+286C>T | ENSP00000493574.1:n.886+286C>T | |
| ENST00000644683.1:c.*468C>T | ENSP00000494085.1:n.*468C>T | |
| ENST00000644810.1:c.736C>T | ENSP00000495895.1:p.Arg246Trp | |
| ENST00000644831.1:n.1191C>T | ||
| ENST00000644933.1:c.286C>T | ENSP00000496133.1:p.Arg96Trp | |
| ENST00000645285.1:c.157+286C>T | ENSP00000495058.1:n.157+286C>T | |
| ENST00000645331.1:n.1538C>T | ||
| ENST00000645620.1:c.286C>T | ENSP00000493657.1:p.Arg96Trp | |
| ENST00000646691.1:n.108C>T | ||
| ENST00000646777.1:n.1348C>T | ||
| ENST00000647016.1:n.1495C>T | ||
| ENST00000647152.1:c.286C>T | ENSP00000495893.1:p.Arg96Trp | |
| ENST00000647209.1:c.*884C>T | ENSP00000495558.1:n.*884C>T | |
| ENST00000647346.1:n.2035C>T | ||
| ENST00000299427.10:c.1015C>T | ENSP00000299427.6:p.Arg339Trp | |
| ENST00000533371.5:c.286C>T | ENSP00000437066.1:p.Arg96Trp | |
| ENST00000611494.4:c.1015C>T | ENSP00000484546.1:p.Arg339Trp | |
| NM_000391.3:c.1015C>T | NP_000382.3:p.Arg339Trp | |
| NM_000391.4:c.1015C>T MANE Select | NP_000382.3:p.Arg339Trp |