Linked Data
ClinVar Variation Id:
321177
dbSNP Id:
rs79507351
gnomAD v2:
16-88880551-T-C
gnomAD v3:
16-88814143-T-C
gnomAD v4:
16-88814143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814143T>C , CM000678.2:g.88814143T>C | GRCh38 |
| NC_000016.9:g.88880551T>C , CM000678.1:g.88880551T>C | GRCh37 |
| NC_000016.8:g.87408052T>C | NCBI36 |
| NG_008013.1:g.2792A>G | |
| NG_008667.1:g.47824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.*296A>G MANE Select | ENSP00000268695.5:n.*296A>G | |
| ENST00000268695.9:c.*296A>G | ENSP00000268695.5:n.*296A>G | |
| ENST00000562593.5:n.5274A>G | ||
| ENST00000567525.5:c.1546A>G | ENSP00000454484.1:n.1546A>G | |
| NM_000512.4:c.*296A>G | NP_000503.1:n.*296A>G | |
| XM_005256302.1:c.*296A>G | XP_005256359.1:n.*296A>G | |
| NM_001323543.1:c.*296A>G | NP_001310472.1:n.*296A>G | |
| NM_001323544.1:c.*296A>G | NP_001310473.1:n.*296A>G | |
| XM_005256301.3:c.*3029A>G | XP_005256358.1:n.*3029A>G | |
| XM_011522982.2:c.*3029A>G | XP_011521284.1:n.*3029A>G | |
| XM_017023112.2:c.*3287A>G | XP_016878601.1:n.*3287A>G | |
| XM_017023113.1:c.*3029A>G | XP_016878602.1:n.*3029A>G | |
| NM_000512.5:c.*296A>G MANE Select | NP_000503.1:n.*296A>G | |
| NM_001323543.2:c.*296A>G | NP_001310472.1:n.*296A>G | |
| NM_001323544.2:c.*296A>G | NP_001310473.1:n.*296A>G |