Linked Data
dbSNP Id:
rs1275173594
gnomAD v2:
11-6639138-T-C
gnomAD v3:
11-6617907-T-C
gnomAD v4:
11-6617907-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617907T>C , CM000673.2:g.6617907T>C | GRCh38 |
| NC_000011.9:g.6639138T>C , CM000673.1:g.6639138T>C | GRCh37 |
| NC_000011.8:g.6595714T>C | NCBI36 |
| NG_008653.1:g.6555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.116-131A>G | ENSP00000507321.1:n.116-131A>G | |
| ENST00000299427.12:c.230-131A>G MANE Select | ENSP00000299427.6:n.230-131A>G | |
| ENST00000428886.7:n.318-131A>G | ||
| ENST00000436873.7:c.34-131A>G | ||
| ENST00000524788.2:n.1111A>G | ||
| ENST00000524903.2:n.1227A>G | ||
| ENST00000528571.6:c.90-131A>G | ENSP00000434647.1:n.90-131A>G | |
| ENST00000530040.2:n.259-131A>G | ||
| ENST00000533371.6:c.-500-131A>G | ENSP00000437066.1:n.-500-131A>G | |
| ENST00000534644.6:n.231-131A>G | ||
| ENST00000642892.1:c.-447-131A>G | ENSP00000494165.1:n.-447-131A>G | |
| ENST00000643439.1:c.90-131A>G | ENSP00000495849.1:n.90-131A>G | |
| ENST00000643479.1:n.259-131A>G | ||
| ENST00000643516.1:c.117-131A>G | ||
| ENST00000644151.1:n.1391A>G | ||
| ENST00000644218.1:c.230-131A>G | ENSP00000493574.1:n.230-131A>G | |
| ENST00000644683.1:c.230-131A>G | ENSP00000494085.1:n.230-131A>G | |
| ENST00000644810.1:c.230-754A>G | ENSP00000495895.1:n.230-754A>G | |
| ENST00000644831.1:n.259-131A>G | ||
| ENST00000644933.1:c.-500-131A>G | ENSP00000496133.1:n.-500-131A>G | |
| ENST00000645020.1:n.1127A>G | ||
| ENST00000645285.1:c.-500-131A>G | ENSP00000495058.1:n.-500-131A>G | |
| ENST00000645331.1:n.252-131A>G | ||
| ENST00000645620.1:c.-442-131A>G | ENSP00000493657.1:n.-442-131A>G | |
| ENST00000646777.1:n.259-131A>G | ||
| ENST00000647016.1:n.432A>G | ||
| ENST00000647152.1:c.-500-131A>G | ENSP00000495893.1:n.-500-131A>G | |
| ENST00000647209.1:c.*99-131A>G | ENSP00000495558.1:n.*99-131A>G | |
| ENST00000647346.1:n.1119A>G | ||
| ENST00000299427.10:c.230-131A>G | ENSP00000299427.6:n.230-131A>G | |
| ENST00000428886.6:n.252-131A>G | ||
| ENST00000436873.6:c.230-131A>G | ENSP00000398136.2:n.230-131A>G | |
| ENST00000528571.5:c.90-131A>G | ENSP00000434647.1:n.90-131A>G | |
| ENST00000528917.1:n.531-131A>G | ||
| ENST00000530040.1:n.342-131A>G | ||
| ENST00000533371.5:c.-500-131A>G | ENSP00000437066.1:n.-500-131A>G | |
| ENST00000534644.5:n.215-131A>G | ||
| ENST00000611494.4:c.230-131A>G | ENSP00000484546.1:n.230-131A>G | |
| NM_000391.3:c.230-131A>G | NP_000382.3:n.230-131A>G | |
| NM_000391.4:c.230-131A>G MANE Select | NP_000382.3:n.230-131A>G |