Linked Data
dbSNP Id:
rs1201767528
gnomAD v2:
12-132239435-C-G
gnomAD v3:
12-131754890-C-G
gnomAD v4:
12-131754890-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131754890C>G , CM000674.2:g.131754890C>G | GRCh38 |
| NC_000012.11:g.132239435C>G , CM000674.1:g.132239435C>G | GRCh37 |
| NC_000012.10:g.130805388C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261674.9:c.1454+391C>G MANE Select | ENSP00000261674.4:n.1454+391C>G | |
| ENST00000261674.8:c.1454+391C>G | ENSP00000261674.4:n.1454+391C>G | |
| ENST00000535236.5:n.4788+391C>G | ||
| ENST00000537164.1:c.373+391C>G | ||
| ENST00000538548.5:c.*1041+391C>G | ENSP00000445832.1:n.*1041+391C>G | |
| ENST00000541286.5:c.1454+391C>G | ENSP00000437738.1:n.1454+391C>G | |
| NM_001261411.1:c.1454+391C>G | NP_001248340.1:n.1454+391C>G | |
| NM_004592.3:c.1454+391C>G | NP_004583.2:n.1454+391C>G | |
| XM_011538653.1:c.1454+391C>G | XP_011536955.1:n.1454+391C>G | |
| XM_011538654.1:c.1076+391C>G | XP_011536956.1:n.1076+391C>G | |
| XM_011538655.1:c.1454+391C>G | XP_011536957.1:n.1454+391C>G | |
| XM_011538654.2:c.1076+391C>G | XP_011536956.1:n.1076+391C>G | |
| XM_011538655.2:c.1454+391C>G | XP_011536957.1:n.1454+391C>G | |
| XM_017019798.1:c.1454+391C>G | XP_016875287.1:n.1454+391C>G | |
| XM_017019799.1:c.833+391C>G | XP_016875288.1:n.833+391C>G | |
| XM_024449125.1:c.1076+391C>G | XP_024304893.1:n.1076+391C>G | |
| XM_024449126.1:c.1076+391C>G | XP_024304894.1:n.1076+391C>G | |
| NM_001261411.2:c.1454+391C>G | NP_001248340.1:n.1454+391C>G | |
| NM_004592.4:c.1454+391C>G MANE Select | NP_004583.2:n.1454+391C>G |