Linked Data
dbSNP Id:
rs759370128
ExAC:
11:6638610 C / T
gnomAD v2:
11-6638610-C-T
gnomAD v4:
11-6617379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617379C>T , CM000673.2:g.6617379C>T | GRCh38 |
| NC_000011.9:g.6638610C>T , CM000673.1:g.6638610C>T | GRCh37 |
| NC_000011.8:g.6595186C>T | NCBI36 |
| NG_008653.1:g.7083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.316G>A | ENSP00000507321.1:p.Gly106Arg | |
| ENST00000299427.12:c.430G>A MANE Select | ENSP00000299427.6:p.Gly144Arg | |
| ENST00000428886.7:n.518G>A | ||
| ENST00000436873.7:c.234G>A | ||
| ENST00000524788.2:n.1442G>A | ||
| ENST00000524903.2:n.1558G>A | ||
| ENST00000528571.6:c.*170G>A | ENSP00000434647.1:n.*170G>A | |
| ENST00000528807.2:n.86G>A | ||
| ENST00000530040.2:n.459G>A | ||
| ENST00000533371.6:c.-300G>A | ENSP00000437066.1:n.-300G>A | |
| ENST00000534644.6:n.431G>A | ||
| ENST00000642892.1:c.-247G>A | ENSP00000494165.1:n.-247G>A | |
| ENST00000643439.1:c.*170G>A | ENSP00000495849.1:n.*170G>A | |
| ENST00000643479.1:n.459G>A | ||
| ENST00000643516.1:c.317G>A | ||
| ENST00000644151.1:n.1722G>A | ||
| ENST00000644218.1:c.430G>A | ENSP00000493574.1:p.Gly144Arg | |
| ENST00000644683.1:c.430G>A | ENSP00000494085.1:p.Gly144Arg | |
| ENST00000644810.1:c.230-226G>A | ENSP00000495895.1:n.230-226G>A | |
| ENST00000644831.1:n.459G>A | ||
| ENST00000644933.1:c.-300G>A | ENSP00000496133.1:n.-300G>A | |
| ENST00000645020.1:n.1458G>A | ||
| ENST00000645285.1:c.-300G>A | ENSP00000495058.1:n.-300G>A | |
| ENST00000645331.1:n.649G>A | ||
| ENST00000645620.1:c.-242G>A | ENSP00000493657.1:n.-242G>A | |
| ENST00000646777.1:n.459G>A | ||
| ENST00000647016.1:n.763G>A | ||
| ENST00000647152.1:c.-300G>A | ENSP00000495893.1:n.-300G>A | |
| ENST00000647209.1:c.*299G>A | ENSP00000495558.1:n.*299G>A | |
| ENST00000647346.1:n.1450G>A | ||
| ENST00000299427.10:c.430G>A | ENSP00000299427.6:p.Gly144Arg | |
| ENST00000428886.6:n.452G>A | ||
| ENST00000436873.6:c.430G>A | ENSP00000398136.2:p.Gly144Arg | |
| ENST00000528571.5:c.*170G>A | ENSP00000434647.1:n.*170G>A | |
| ENST00000530040.1:n.542G>A | ||
| ENST00000533371.5:c.-300G>A | ENSP00000437066.1:n.-300G>A | |
| ENST00000534644.5:n.415G>A | ||
| ENST00000611494.4:c.430G>A | ENSP00000484546.1:p.Gly144Arg | |
| NM_000391.3:c.430G>A | NP_000382.3:p.Gly144Arg | |
| NM_000391.4:c.430G>A MANE Select | NP_000382.3:p.Gly144Arg |