Linked Data
dbSNP Id:
rs12953717
gnomAD v2:
18-46453929-C-T
gnomAD v3:
18-48927559-C-T
gnomAD v4:
18-48927559-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.48927559C>T , CM000680.2:g.48927559C>T | GRCh38 |
| NC_000018.9:g.46453929C>T , CM000680.1:g.46453929C>T | GRCh37 |
| NC_000018.8:g.44707927C>T | NCBI36 |
| NG_023330.1:g.28153G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262158.8:c.743-5649G>A MANE Select | ENSP00000262158.2:n.743-5649G>A | |
| ENST00000262158.7:c.743-5649G>A | ENSP00000262158.2:n.743-5649G>A | |
| ENST00000262158.6:c.743-5649G>A | ENSP00000262158.2:n.743-5649G>A | |
| ENST00000545051.2:n.328-5649G>A | ||
| ENST00000585986.1:n.154-5649G>A | ||
| ENST00000586093.1:c.98-5649G>A | ENSP00000465590.1:n.98-5649G>A | |
| ENST00000587336.1:n.49+2575G>A | ||
| ENST00000588190.1:n.132-5649G>A | ||
| ENST00000589634.1:c.740-5649G>A | ENSP00000467621.1:n.740-5649G>A | |
| ENST00000591805.5:c.98-5649G>A | ENSP00000466902.1:n.98-5649G>A | |
| NM_001190821.1:c.740-5649G>A | NP_001177750.1:n.740-5649G>A | |
| NM_001190822.1:c.98-5649G>A | NP_001177751.1:n.98-5649G>A | |
| NM_001190823.1:c.179-5649G>A | NP_001177752.1:n.179-5649G>A | |
| NM_005904.3:c.743-5649G>A | NP_005895.1:n.743-5649G>A | |
| NM_001190822.2:c.98-5649G>A | NP_001177751.1:n.98-5649G>A | |
| NM_001190821.2:c.740-5649G>A | NP_001177750.1:n.740-5649G>A | |
| NM_001190823.2:c.179-5649G>A | NP_001177752.1:n.179-5649G>A | |
| NM_005904.4:c.743-5649G>A MANE Select | NP_005895.1:n.743-5649G>A |