Linked Data
ClinVar Variation Id:
319937
dbSNP Id:
rs139828223
gnomAD v2:
16-56947893-C-G
gnomAD v3:
16-56913981-C-G
gnomAD v4:
16-56913981-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56913981C>G , CM000678.2:g.56913981C>G | GRCh38 |
| NC_000016.9:g.56947893C>G , CM000678.1:g.56947893C>G | GRCh37 |
| NC_000016.8:g.55505394C>G | NCBI36 |
| NG_009386.1:g.53775C>G | |
| NG_009386.2:g.53775C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.*576C>G MANE Select | ENSP00000456149.2:n.*576C>G | |
| ENST00000262502.5:c.*576C>G | ENSP00000262502.5:n.*576C>G | |
| ENST00000438926.6:c.*576C>G | ENSP00000402152.2:n.*576C>G | |
| ENST00000563236.5:c.*576C>G | ENSP00000456149.1:n.*576C>G | |
| NM_000339.2:c.*576C>G | NP_000330.2:n.*576C>G | |
| NM_001126107.1:c.*576C>G | NP_001119579.1:n.*576C>G | |
| NM_001126108.1:c.*576C>G | NP_001119580.1:n.*576C>G | |
| NM_000339.3:c.*576C>G | NP_000330.3:n.*576C>G | |
| NM_001126107.2:c.*576C>G | NP_001119579.2:n.*576C>G | |
| NM_001126108.2:c.*576C>G MANE Select | NP_001119580.2:n.*576C>G |