Linked Data
dbSNP Id:
rs12569163
gnomAD v2:
1-241878547-T-G
gnomAD v3:
1-241715245-T-G
gnomAD v4:
1-241715245-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241715245T>G , CM000663.2:g.241715245T>G | GRCh38 |
| NC_000001.10:g.241878547T>G , CM000663.1:g.241878547T>G | GRCh37 |
| NC_000001.9:g.239945170T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425826.3:c.1054+3364T>G | ENSP00000406342.3:n.1054+3364T>G | |
| ENST00000437684.7:c.1054+3364T>G MANE Select | ENSP00000402446.4:n.1054+3364T>G | |
| ENST00000366552.6:c.1024+3364T>G | ENSP00000355510.2:n.1024+3364T>G | |
| ENST00000414635.5:c.337+3364T>G | ENSP00000406656.1:n.337+3364T>G | |
| ENST00000437684.6:c.184+3364T>G | ENSP00000402446.3:n.184+3364T>G | |
| NM_144625.4:c.1024+3364T>G | NP_653226.4:n.1024+3364T>G | |
| XM_006711736.2:c.1054+3364T>G | XP_006711799.1:n.1054+3364T>G | |
| XM_011544084.1:c.571+3364T>G | XP_011542386.1:n.571+3364T>G | |
| XM_011544085.1:c.571+3364T>G | XP_011542387.1:n.571+3364T>G | |
| XM_011544086.1:c.571+3364T>G | XP_011542388.1:n.571+3364T>G | |
| XM_011544087.1:c.1054+3364T>G | XP_011542389.1:n.1054+3364T>G | |
| XM_011544088.1:c.115+3364T>G | XP_011542390.1:n.115+3364T>G | |
| XM_011544089.1:c.61+3364T>G | XP_011542391.1:n.61+3364T>G | |
| XM_011544090.1:c.61+3364T>G | XP_011542392.1:n.61+3364T>G | |
| XM_011544091.1:c.1054+3364T>G | XP_011542393.1:n.1054+3364T>G | |
| XM_011544092.1:c.1054+3364T>G | XP_011542394.1:n.1054+3364T>G | |
| XM_011544093.1:c.1054+3364T>G | XP_011542395.1:n.1054+3364T>G | |
| XM_006711736.3:c.1054+3364T>G | XP_006711799.1:n.1054+3364T>G | |
| XM_011544086.3:c.571+3364T>G | XP_011542388.1:n.571+3364T>G | |
| XM_011544087.2:c.1054+3364T>G | XP_011542389.1:n.1054+3364T>G | |
| XM_011544092.2:c.1054+3364T>G | XP_011542394.1:n.1054+3364T>G | |
| XM_017000315.1:c.802+3364T>G | XP_016855804.1:n.802+3364T>G | |
| XR_002959419.1:n.1261+3364T>G | ||
| NM_001367482.1:c.1054+3364T>G MANE Select | NP_001354411.1:n.1054+3364T>G |