Linked Data
ClinVar Variation Id:
379454
ClinVar RCV Id:
RCV000429957
dbSNP Id:
rs6763202
ExAC:
3:143293012 A / G
gnomAD v2:
3-143293012-A-G
gnomAD v3:
3-143574170-A-G
gnomAD v4:
3-143574170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143574170A>G , CM000665.2:g.143574170A>G | GRCh38 |
| NC_000003.11:g.143293012A>G , CM000665.1:g.143293012A>G | GRCh37 |
| NC_000003.10:g.144775702A>G | NCBI36 |
| NG_017077.1:g.279362T>C | |
| NG_017077.2:g.279362T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.918T>C MANE Select | ENSP00000320246.6:p.Cys306= | |
| ENST00000316549.10:c.918T>C | ENSP00000320246.6:p.Cys306= | |
| ENST00000483124.1:n.455T>C | ||
| NM_173653.3:c.918T>C | NP_775924.1:p.Cys306= | |
| XM_011512703.1:c.270T>C | XP_011511005.1:p.Cys90= | |
| XM_011512704.1:c.918T>C | XP_011511006.1:p.Cys306= | |
| XM_011512703.3:c.270T>C | XP_011511005.1:p.Cys90= | |
| XM_011512704.3:c.918T>C | XP_011511006.1:p.Cys306= | |
| XM_017006202.2:c.918T>C | XP_016861691.1:p.Cys306= | |
| XM_017006203.1:c.567T>C | XP_016861692.1:p.Cys189= | |
| NM_173653.4:c.918T>C MANE Select | NP_775924.1:p.Cys306= |