Linked Data
ClinVar Variation Id:
343422
dbSNP Id:
rs1130459
ExAC:
3:133465283 A / G
gnomAD v2:
3-133465283-A-G
gnomAD v3:
3-133746439-A-G
gnomAD v4:
3-133746439-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133746439A>G , CM000665.2:g.133746439A>G | GRCh38 |
| NC_000003.11:g.133465283A>G , CM000665.1:g.133465283A>G | GRCh37 |
| NC_000003.10:g.134947973A>G | NCBI36 |
| NG_013080.1:g.5307A>G | |
| NG_013080.2:g.89442A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.-2A>G (TF) MANE Select | ENSP00000385834.3:n.-2A>G | |
| ENST00000402696.7:c.-2A>G (TF) | ENSP00000385834.3:n.-2A>G | |
| ENST00000414694.5:c.-2A>G (TF) | ENSP00000401505.1:n.-2A>G | |
| ENST00000460531.5:n.47A>G (TF) | ||
| ENST00000460564.5:n.382-7156A>G (INHCAP) | ||
| ENST00000466911.5:c.-90+190A>G (TF) | ENSP00000417468.1:n.-90+190A>G | |
| ENST00000474287.5:n.112A>G (TF) | ||
| ENST00000482271.5:c.-210A>G (TF) | ENSP00000419338.1:n.-210A>G | |
| ENST00000485977.1:c.-2A>G (TF) | ENSP00000418716.1:n.-2A>G | |
| ENST00000493011.5:n.47A>G (TF) | ||
| ENST00000494430.5:c.-2A>G (TF) | ENSP00000418396.1:n.-2A>G | |
| NM_001063.3:c.-2A>G (TF) | NP_001054.1:n.-2A>G | |
| XM_011513100.1:c.-2A>G (TF) | XP_011511402.1:n.-2A>G | |
| NM_001354703.1:c.-89-1973A>G (TF) | NP_001341632.1:n.-89-1973A>G | |
| NM_001354704.1:c.-210A>G (TF) | NP_001341633.1:n.-210A>G | |
| NM_001063.4:c.-2A>G (TF) MANE Select | NP_001054.2:n.-2A>G | |
| NM_001354703.2:c.-89-1973A>G (TF) | NP_001341632.2:n.-89-1973A>G | |
| NM_001354704.2:c.-210A>G (TF) | NP_001341633.2:n.-210A>G |