Linked Data
ClinVar Variation Id:
256330
dbSNP Id:
rs11076715
ExAC:
16:88880811 C / T
gnomAD v2:
16-88880811-C-T
gnomAD v3:
16-88814403-C-T
gnomAD v4:
16-88814403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814403C>T , CM000678.2:g.88814403C>T | GRCh38 |
| NC_000016.9:g.88880811C>T , CM000678.1:g.88880811C>T | GRCh37 |
| NC_000016.8:g.87408312C>T | NCBI36 |
| NG_008013.1:g.2532G>A | |
| NG_008667.1:g.47564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.*36G>A MANE Select | ENSP00000268695.5:n.*36G>A | |
| ENST00000268695.9:c.*36G>A | ENSP00000268695.5:n.*36G>A | |
| ENST00000562593.5:n.5014G>A | ||
| ENST00000567525.5:c.1286G>A | ENSP00000454484.1:n.1286G>A | |
| ENST00000568613.5:c.1724G>A | ENSP00000457921.1:n.1724G>A | |
| NM_000512.4:c.*36G>A | NP_000503.1:n.*36G>A | |
| XM_005256302.1:c.*36G>A | XP_005256359.1:n.*36G>A | |
| NM_001323543.1:c.*36G>A | NP_001310472.1:n.*36G>A | |
| NM_001323544.1:c.*36G>A | NP_001310473.1:n.*36G>A | |
| XM_005256301.3:c.*2769G>A | XP_005256358.1:n.*2769G>A | |
| XM_011522982.2:c.*2769G>A | XP_011521284.1:n.*2769G>A | |
| XM_017023112.2:c.*3027G>A | XP_016878601.1:n.*3027G>A | |
| XM_017023113.1:c.*2769G>A | XP_016878602.1:n.*2769G>A | |
| NM_000512.5:c.*36G>A MANE Select | NP_000503.1:n.*36G>A | |
| NM_001323543.2:c.*36G>A | NP_001310472.1:n.*36G>A | |
| NM_001323544.2:c.*36G>A | NP_001310473.1:n.*36G>A |