Linked Data
dbSNP Id:
rs1867504
gnomAD v2:
3-133410661-A-G
gnomAD v3:
3-133691817-A-G
gnomAD v4:
3-133691817-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133691817A>G , CM000665.2:g.133691817A>G | GRCh38 |
| NC_000003.11:g.133410661A>G , CM000665.1:g.133410661A>G | GRCh37 |
| NC_000003.10:g.134893351A>G | NCBI36 |
| NG_013080.2:g.34820A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000460564.5:n.209+3453A>G (INHCAP) | ||
| ENST00000475455.1:n.268A>G (INHCAP) | ||
| ENST00000490470.5:n.209+3453A>G (INHCAP) | ||
| ENST00000497521.5:n.208+3453A>G (INHCAP) | ||
| XM_011513100.1:c.-1289+3453A>G (TF) | XP_011511402.1:n.-1289+3453A>G | |
| NM_001354703.1:c.-940+3453A>G (TF) | NP_001341632.1:n.-940+3453A>G | |
| NM_001354703.2:c.-940+3453A>G (TF) | NP_001341632.2:n.-940+3453A>G |