Linked Data
dbSNP Id:
rs2466293
gnomAD v2:
8-118185938-A-G
gnomAD v3:
8-117173699-A-G
gnomAD v4:
8-117173699-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117173699A>G , CM000670.2:g.117173699A>G | GRCh38 |
| NC_000008.10:g.118185938A>G , CM000670.1:g.118185938A>G | GRCh37 |
| NC_000008.9:g.118255119A>G | NCBI36 |
| NG_016991.1:g.228427A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456015.7:c.*1018A>G MANE Select | ENSP00000415011.2:n.*1018A>G | |
| ENST00000427715.2:c.*1018A>G | ENSP00000407505.2:n.*1018A>G | |
| ENST00000456015.6:c.2128A>G | ENSP00000415011.2:n.2128A>G | |
| ENST00000519688.5:c.*1018A>G | ENSP00000431069.1:n.*1018A>G | |
| NM_001172811.1:c.*1018A>G | NP_001166282.1:n.*1018A>G | |
| NM_001172813.1:c.*1018A>G | NP_001166284.1:n.*1018A>G | |
| NM_001172814.1:c.*1018A>G | NP_001166285.1:n.*1018A>G | |
| NM_001172815.1:c.*1018A>G | NP_001166286.1:n.*1018A>G | |
| NM_173851.2:c.*1018A>G | NP_776250.2:n.*1018A>G | |
| XM_011516881.1:c.*1018A>G | XP_011515183.1:n.*1018A>G | |
| XM_011516882.1:c.*1018A>G | XP_011515184.1:n.*1018A>G | |
| XR_928566.1:n.920-211T>C | ||
| XR_928567.1:n.513-211T>C | ||
| XR_928568.1:n.718-211T>C | ||
| XR_928569.1:n.761-211T>C | ||
| XR_928570.1:n.761-211T>C | ||
| NM_001172815.2:c.*1018A>G | NP_001166286.1:n.*1018A>G | |
| XM_024447083.1:c.*1018A>G | XP_024302851.1:n.*1018A>G | |
| XR_001746038.1:n.705-211T>C | ||
| XR_928566.2:n.863-211T>C | ||
| XR_928567.2:n.476-211T>C | ||
| XR_928568.3:n.716-211T>C | ||
| XR_928569.2:n.714-211T>C | ||
| XR_928570.2:n.714-211T>C | ||
| NM_001172811.2:c.*1018A>G | NP_001166282.1:n.*1018A>G | |
| NM_001172813.2:c.*1018A>G | NP_001166284.1:n.*1018A>G | |
| NM_001172814.2:c.*1018A>G | NP_001166285.1:n.*1018A>G | |
| NM_173851.3:c.*1018A>G MANE Select | NP_776250.2:n.*1018A>G | |
| NM_001172815.3:c.*1018A>G | NP_001166286.1:n.*1018A>G |