Linked Data
dbSNP Id:
rs8085824
gnomAD v2:
18-46449111-T-C
gnomAD v3:
18-48922741-T-C
gnomAD v4:
18-48922741-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.48922741T>C , CM000680.2:g.48922741T>C | GRCh38 |
| NC_000018.9:g.46449111T>C , CM000680.1:g.46449111T>C | GRCh37 |
| NC_000018.8:g.44703109T>C | NCBI36 |
| NG_023330.1:g.32971A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262158.8:c.743-831A>G MANE Select | ENSP00000262158.2:n.743-831A>G | |
| ENST00000262158.7:c.743-831A>G | ENSP00000262158.2:n.743-831A>G | |
| ENST00000262158.6:c.743-831A>G | ENSP00000262158.2:n.743-831A>G | |
| ENST00000545051.2:n.328-831A>G | ||
| ENST00000585986.1:n.154-831A>G | ||
| ENST00000586093.1:c.98-831A>G | ENSP00000465590.1:n.98-831A>G | |
| ENST00000587336.1:n.50-831A>G | ||
| ENST00000588190.1:n.132-831A>G | ||
| ENST00000589634.1:c.740-831A>G | ENSP00000467621.1:n.740-831A>G | |
| ENST00000591805.5:c.98-831A>G | ENSP00000466902.1:n.98-831A>G | |
| NM_001190821.1:c.740-831A>G | NP_001177750.1:n.740-831A>G | |
| NM_001190822.1:c.98-831A>G | NP_001177751.1:n.98-831A>G | |
| NM_001190823.1:c.179-831A>G | NP_001177752.1:n.179-831A>G | |
| NM_005904.3:c.743-831A>G | NP_005895.1:n.743-831A>G | |
| NM_001190822.2:c.98-831A>G | NP_001177751.1:n.98-831A>G | |
| NM_001190821.2:c.740-831A>G | NP_001177750.1:n.740-831A>G | |
| NM_001190823.2:c.179-831A>G | NP_001177752.1:n.179-831A>G | |
| NM_005904.4:c.743-831A>G MANE Select | NP_005895.1:n.743-831A>G |