Linked Data
dbSNP Id:
rs754615268
ExAC:
11:6638972 C / T
gnomAD v2:
11-6638972-C-T
gnomAD v4:
11-6617741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617741C>T , CM000673.2:g.6617741C>T | GRCh38 |
| NC_000011.9:g.6638972C>T , CM000673.1:g.6638972C>T | GRCh37 |
| NC_000011.8:g.6595548C>T | NCBI36 |
| NG_008653.1:g.6721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.151G>A | ENSP00000507321.1:p.Val51Met | |
| ENST00000299427.12:c.265G>A MANE Select | ENSP00000299427.6:p.Val89Met | |
| ENST00000428886.7:n.353G>A | ||
| ENST00000436873.7:c.69G>A | ||
| ENST00000524788.2:n.1277G>A | ||
| ENST00000524903.2:n.1393G>A | ||
| ENST00000528571.6:c.*5G>A | ENSP00000434647.1:n.*5G>A | |
| ENST00000530040.2:n.294G>A | ||
| ENST00000533371.6:c.-465G>A | ENSP00000437066.1:n.-465G>A | |
| ENST00000534644.6:n.266G>A | ||
| ENST00000642892.1:c.-412G>A | ENSP00000494165.1:n.-412G>A | |
| ENST00000643439.1:c.*5G>A | ENSP00000495849.1:n.*5G>A | |
| ENST00000643479.1:n.294G>A | ||
| ENST00000643516.1:c.152G>A | ||
| ENST00000644151.1:n.1557G>A | ||
| ENST00000644218.1:c.265G>A | ENSP00000493574.1:p.Val89Met | |
| ENST00000644683.1:c.265G>A | ENSP00000494085.1:p.Val89Met | |
| ENST00000644810.1:c.230-588G>A | ENSP00000495895.1:n.230-588G>A | |
| ENST00000644831.1:n.294G>A | ||
| ENST00000644933.1:c.-465G>A | ENSP00000496133.1:n.-465G>A | |
| ENST00000645020.1:n.1293G>A | ||
| ENST00000645285.1:c.-465G>A | ENSP00000495058.1:n.-465G>A | |
| ENST00000645331.1:n.287G>A | ||
| ENST00000645620.1:c.-407G>A | ENSP00000493657.1:n.-407G>A | |
| ENST00000646777.1:n.294G>A | ||
| ENST00000647016.1:n.598G>A | ||
| ENST00000647152.1:c.-465G>A | ENSP00000495893.1:n.-465G>A | |
| ENST00000647209.1:c.*134G>A | ENSP00000495558.1:n.*134G>A | |
| ENST00000647346.1:n.1285G>A | ||
| ENST00000299427.10:c.265G>A | ENSP00000299427.6:p.Val89Met | |
| ENST00000428886.6:n.287G>A | ||
| ENST00000436873.6:c.265G>A | ENSP00000398136.2:p.Val89Met | |
| ENST00000528571.5:c.*5G>A | ENSP00000434647.1:n.*5G>A | |
| ENST00000530040.1:n.377G>A | ||
| ENST00000533371.5:c.-465G>A | ENSP00000437066.1:n.-465G>A | |
| ENST00000534644.5:n.250G>A | ||
| ENST00000611494.4:c.265G>A | ENSP00000484546.1:p.Val89Met | |
| NM_000391.3:c.265G>A | NP_000382.3:p.Val89Met | |
| NM_000391.4:c.265G>A MANE Select | NP_000382.3:p.Val89Met |