Linked Data
ClinVar Variation Id:
350147
ClinVar RCV Id:
RCV000349118
dbSNP Id:
rs11097457
gnomAD v2:
4-96076813-A-G
gnomAD v3:
4-95155662-A-G
gnomAD v4:
4-95155662-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.95155662A>G , CM000666.2:g.95155662A>G | GRCh38 |
| NC_000004.11:g.96076813A>G , CM000666.1:g.96076813A>G | GRCh37 |
| NC_000004.10:g.96295836A>G | NCBI36 |
| NG_009245.1:g.402686A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440890.7:c.*989A>G | ENSP00000401907.2:n.*989A>G | |
| ENST00000509540.6:c.*13+976A>G | ENSP00000421671.1:n.*13+976A>G | |
| ENST00000515059.6:c.*989A>G MANE Select | ENSP00000426617.1:n.*989A>G | |
| ENST00000672698.1:c.*989A>G | ENSP00000500035.1:n.*989A>G | |
| ENST00000440890.6:c.*989A>G | ENSP00000401907.2:n.*989A>G | |
| ENST00000515059.5:c.*989A>G | ENSP00000426617.1:n.*989A>G | |
| NM_001203.2:c.*989A>G | NP_001194.1:n.*989A>G | |
| NM_001256792.1:c.*989A>G | NP_001243721.1:n.*989A>G | |
| NM_001256793.1:c.*989A>G | NP_001243722.1:n.*989A>G | |
| NM_001256794.1:c.*989A>G | NP_001243723.1:n.*989A>G | |
| XM_011532201.1:c.*989A>G | XP_011530503.1:n.*989A>G | |
| XM_011532202.1:c.*989A>G | XP_011530504.1:n.*989A>G | |
| XM_011532201.2:c.*989A>G | XP_011530503.1:n.*989A>G | |
| XM_017008558.1:c.*989A>G | XP_016864047.1:n.*989A>G | |
| XM_017008559.1:c.*989A>G | XP_016864048.1:n.*989A>G | |
| XM_017008560.1:c.*989A>G | XP_016864049.1:n.*989A>G | |
| XM_017008561.1:c.*989A>G | XP_016864050.1:n.*989A>G | |
| NM_001203.3:c.*989A>G MANE Select | NP_001194.1:n.*989A>G | |
| NM_001256793.2:c.*989A>G | NP_001243722.1:n.*989A>G | |
| NM_001256792.2:c.*989A>G | NP_001243721.1:n.*989A>G |