Linked Data
ClinVar Variation Id:
286346
dbSNP Id:
rs3818401
ExAC:
11:34938199 C / G
gnomAD v2:
11-34938199-C-G
gnomAD v3:
11-34916652-C-G
gnomAD v4:
11-34916652-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916652C>G , CM000673.2:g.34916652C>G | GRCh38 |
| NC_000011.9:g.34938199C>G , CM000673.1:g.34938199C>G | GRCh37 |
| NC_000011.8:g.34894775C>G | NCBI36 |
| NG_013368.1:g.5523C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.-21+166C>G | ENSP00000389404.3:n.-21+166C>G | |
| ENST00000227868.9:c.-4C>G MANE Select | ENSP00000227868.4:n.-4C>G | |
| ENST00000227868.8:c.-4C>G | ENSP00000227868.4:n.-4C>G | |
| ENST00000430469.6:c.-4C>G | ENSP00000415695.2:n.-4C>G | |
| ENST00000448838.7:c.115+166C>G | ENSP00000389404.2:n.115+166C>G | |
| ENST00000533262.1:c.-4C>G | ENSP00000432277.1:n.-4C>G | |
| ENST00000533550.5:c.-21+714C>G | ENSP00000431281.1:n.-21+714C>G | |
| NM_001135024.1:c.115+166C>G | NP_001128496.1:n.115+166C>G | |
| NM_001166158.1:c.-4C>G | NP_001159630.1:n.-4C>G | |
| NM_003477.2:c.-4C>G | NP_003468.2:n.-4C>G | |
| XM_011520390.1:c.-21+714C>G | XP_011518692.1:n.-21+714C>G | |
| NM_003477.3:c.-4C>G MANE Select | NP_003468.2:n.-4C>G | |
| NM_001135024.2:c.-21+166C>G | NP_001128496.2:n.-21+166C>G | |
| NM_001166158.2:c.-4C>G | NP_001159630.1:n.-4C>G |