Linked Data
ClinVar Variation Id:
346819
ClinVar RCV Id:
RCV000329921
dbSNP Id:
rs544589377
gnomAD v2:
3-87304043-A-G
gnomAD v3:
3-87254893-A-G
gnomAD v4:
3-87254893-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87254893A>G , CM000665.2:g.87254893A>G | GRCh38 |
| NC_000003.11:g.87304043A>G , CM000665.1:g.87304043A>G | GRCh37 |
| NC_000003.10:g.87386733A>G | NCBI36 |
| NG_007885.1:g.32631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.*1071A>G MANE Select | ENSP00000263780.4:n.*1071A>G | |
| ENST00000472024.3:c.*1071A>G | ENSP00000480032.2:n.*1071A>G | |
| ENST00000676705.1:c.*1071A>G | ENSP00000504098.1:n.*1071A>G | |
| ENST00000677929.1:n.5377A>G | ||
| ENST00000678859.1:n.5462A>G | ||
| ENST00000263780.8:c.*1071A>G | ENSP00000263780.4:n.*1071A>G | |
| ENST00000471660.5:c.*1071A>G | ENSP00000419998.1:n.*1071A>G | |
| NM_001244644.1:c.*1071A>G | NP_001231573.1:n.*1071A>G | |
| NM_014043.3:c.*1071A>G | NP_054762.2:n.*1071A>G | |
| XM_011533576.1:c.*1071A>G | XP_011531878.1:n.*1071A>G | |
| XM_011533576.2:c.*1071A>G | XP_011531878.1:n.*1071A>G | |
| NM_014043.4:c.*1071A>G MANE Select | NP_054762.2:n.*1071A>G | |
| NM_001244644.2:c.*1071A>G | NP_001231573.1:n.*1071A>G |