Linked Data
dbSNP Id:
rs1822161488
gnomAD v3:
8-117151075-C-A
gnomAD v4:
8-117151075-C-A
COSMIC:
COSN25700487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117151075C>A , CM000670.2:g.117151075C>A | GRCh38 |
| NC_000008.10:g.118163314C>A , CM000670.1:g.118163314C>A | GRCh37 |
| NC_000008.9:g.118232495C>A | NCBI36 |
| NG_016991.1:g.205803C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456015.7:c.272-1869C>A MANE Select | ENSP00000415011.2:n.272-1869C>A | |
| ENST00000427715.2:c.125-1869C>A | ENSP00000407505.2:n.125-1869C>A | |
| ENST00000456015.6:c.272-1869C>A | ENSP00000415011.2:n.272-1869C>A | |
| ENST00000518521.5:c.125-1869C>A | ENSP00000485566.1:n.125-1869C>A | |
| ENST00000519688.5:c.125-1869C>A | ENSP00000431069.1:n.125-1869C>A | |
| ENST00000521243.5:c.125-1869C>A | ENSP00000428545.1:n.125-1869C>A | |
| ENST00000524274.5:c.125-1869C>A | ENSP00000427760.1:n.125-1869C>A | |
| NM_001172811.1:c.125-1869C>A | NP_001166282.1:n.125-1869C>A | |
| NM_001172813.1:c.125-1869C>A | NP_001166284.1:n.125-1869C>A | |
| NM_001172814.1:c.125-1869C>A | NP_001166285.1:n.125-1869C>A | |
| NM_001172815.1:c.125-1869C>A | NP_001166286.1:n.125-1869C>A | |
| NM_173851.2:c.272-1869C>A | NP_776250.2:n.272-1869C>A | |
| XM_011516881.1:c.272-1869C>A | XP_011515183.1:n.272-1869C>A | |
| XM_011516882.1:c.125-1869C>A | XP_011515184.1:n.125-1869C>A | |
| XR_928569.1:n.1020+21540G>T | ||
| XR_928570.1:n.1020+21540G>T | ||
| NM_001172815.2:c.125-1869C>A | NP_001166286.1:n.125-1869C>A | |
| XM_024447083.1:c.125-1869C>A | XP_024302851.1:n.125-1869C>A | |
| XR_928569.2:n.973+21540G>T | ||
| XR_928570.2:n.973+21540G>T | ||
| NM_001172811.2:c.125-1869C>A | NP_001166282.1:n.125-1869C>A | |
| NM_001172813.2:c.125-1869C>A | NP_001166284.1:n.125-1869C>A | |
| NM_001172814.2:c.125-1869C>A | NP_001166285.1:n.125-1869C>A | |
| NM_173851.3:c.272-1869C>A MANE Select | NP_776250.2:n.272-1869C>A | |
| NM_001172815.3:c.125-1869C>A | NP_001166286.1:n.125-1869C>A |