Linked Data
ClinVar Variation Id:
12256
ClinVar RCV Id:
RCV002251319
dbSNP Id:
rs28934583
gnomAD v4:
16-20348652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20348652A>G , CM000678.2:g.20348652A>G | GRCh38 |
| NC_000016.9:g.20359974A>G , CM000678.1:g.20359974A>G | GRCh37 |
| NC_000016.8:g.20267475A>G | NCBI36 |
| NG_008151.1:g.9064T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.649T>C MANE Select | ENSP00000379442.5:p.Cys217Arg | |
| ENST00000302509.8:c.649T>C | ENSP00000306279.4:p.Cys217Arg | |
| ENST00000396134.6:c.748T>C | ENSP00000379438.2:p.Cys250Arg | |
| ENST00000396138.8:c.796T>C | ENSP00000379442.4:p.Cys266Arg | |
| ENST00000570689.5:c.649T>C | ENSP00000460548.1:p.Cys217Arg | |
| NM_001008389.2:c.649T>C | NP_001008390.1:p.Cys217Arg | |
| NM_001278614.1:c.748T>C | NP_001265543.1:p.Cys250Arg | |
| NM_003361.3:c.649T>C | NP_003352.2:p.Cys217Arg | |
| XM_011545934.1:c.733T>C | XP_011544236.1:p.Cys245Arg | |
| XM_011545935.1:c.649T>C | XP_011544237.1:p.Cys217Arg | |
| XM_011545936.1:c.649T>C | XP_011544238.1:p.Cys217Arg | |
| XM_011545937.1:c.649T>C | XP_011544239.1:p.Cys217Arg | |
| XM_011545938.1:c.649T>C | XP_011544240.1:p.Cys217Arg | |
| XM_011545939.1:c.733T>C | XP_011544241.1:p.Cys245Arg | |
| XM_011545940.1:c.796T>C | XP_011544242.1:p.Cys266Arg | |
| XM_011545934.2:c.649T>C | XP_011544236.2:p.Cys217Arg | |
| XM_011545940.2:c.649T>C | XP_011544242.2:p.Cys217Arg | |
| XM_024450433.1:c.649T>C | XP_024306201.1:p.Cys217Arg | |
| NM_001008389.3:c.649T>C | NP_001008390.1:p.Cys217Arg | |
| NM_001278614.2:c.748T>C | NP_001265543.1:p.Cys250Arg | |
| NM_001378232.1:c.649T>C | NP_001365161.1:p.Cys217Arg | |
| NM_001378233.1:c.649T>C | NP_001365162.1:p.Cys217Arg | |
| NM_001378234.1:c.649T>C | NP_001365163.1:p.Cys217Arg | |
| NM_001378235.1:c.649T>C | NP_001365164.1:p.Cys217Arg | |
| NM_001378237.1:c.649T>C | NP_001365166.1:p.Cys217Arg | |
| NM_003361.4:c.649T>C MANE Select | NP_003352.2:p.Cys217Arg | |
| NR_165456.1:n.874T>C |