Linked Data
dbSNP Id:
rs3802177
gnomAD v2:
8-118185025-G-A
gnomAD v3:
8-117172786-G-A
gnomAD v4:
8-117172786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117172786G>A , CM000670.2:g.117172786G>A | GRCh38 |
| NC_000008.10:g.118185025G>A , CM000670.1:g.118185025G>A | GRCh37 |
| NC_000008.9:g.118254206G>A | NCBI36 |
| NG_016991.1:g.227514G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456015.7:c.*105G>A MANE Select | ENSP00000415011.2:n.*105G>A | |
| ENST00000427715.2:c.*105G>A | ENSP00000407505.2:n.*105G>A | |
| ENST00000456015.6:c.1215G>A | ENSP00000415011.2:n.1215G>A | |
| ENST00000519688.5:c.*105G>A | ENSP00000431069.1:n.*105G>A | |
| ENST00000521243.5:c.*105G>A | ENSP00000428545.1:n.*105G>A | |
| NM_001172811.1:c.*105G>A | NP_001166282.1:n.*105G>A | |
| NM_001172813.1:c.*105G>A | NP_001166284.1:n.*105G>A | |
| NM_001172814.1:c.*105G>A | NP_001166285.1:n.*105G>A | |
| NM_001172815.1:c.*105G>A | NP_001166286.1:n.*105G>A | |
| NM_173851.2:c.*105G>A | NP_776250.2:n.*105G>A | |
| XM_011516881.1:c.*105G>A | XP_011515183.1:n.*105G>A | |
| XM_011516882.1:c.*105G>A | XP_011515184.1:n.*105G>A | |
| XR_928569.1:n.890-41C>T | ||
| XR_928570.1:n.890-41C>T | ||
| NM_001172815.2:c.*105G>A | NP_001166286.1:n.*105G>A | |
| XM_024447083.1:c.*105G>A | XP_024302851.1:n.*105G>A | |
| XR_928569.2:n.843-41C>T | ||
| XR_928570.2:n.843-41C>T | ||
| NM_001172811.2:c.*105G>A | NP_001166282.1:n.*105G>A | |
| NM_001172813.2:c.*105G>A | NP_001166284.1:n.*105G>A | |
| NM_001172814.2:c.*105G>A | NP_001166285.1:n.*105G>A | |
| NM_173851.3:c.*105G>A MANE Select | NP_776250.2:n.*105G>A | |
| NM_001172815.3:c.*105G>A | NP_001166286.1:n.*105G>A |