Linked Data
dbSNP Id:
rs3118867
gnomAD v2:
9-90261695-A-G
gnomAD v3:
9-87646780-A-G
gnomAD v4:
9-87646780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.87646780A>G , CM000671.2:g.87646780A>G | GRCh38 |
| NC_000009.11:g.90261695A>G , CM000671.1:g.90261695A>G | GRCh37 |
| NC_000009.10:g.89451515A>G | NCBI36 |
| NG_029883.1:g.153940A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000408954.8:c.1230+221A>G MANE Select | ENSP00000386135.3:n.1230+221A>G | |
| ENST00000358077.9:c.1230+221A>G | ENSP00000350785.5:n.1230+221A>G | |
| ENST00000408954.7:c.1230+221A>G | ENSP00000386135.3:n.1230+221A>G | |
| ENST00000469067.5:n.1710+221A>G | ||
| ENST00000469640.6:c.1230+221A>G | ENSP00000418885.3:n.1230+221A>G | |
| ENST00000472284.5:c.1230+221A>G | ENSP00000417076.1:n.1230+221A>G | |
| ENST00000489291.5:c.*614+221A>G | ENSP00000417746.1:n.*614+221A>G | |
| ENST00000491893.5:c.1230+221A>G | ENSP00000419026.1:n.1230+221A>G | |
| ENST00000622514.4:c.1230+221A>G | ENSP00000484267.1:n.1230+221A>G | |
| NM_001288729.1:c.1230+221A>G | NP_001275658.1:n.1230+221A>G | |
| NM_001288730.1:c.1230+221A>G | NP_001275659.1:n.1230+221A>G | |
| NM_001288731.1:c.1230+221A>G | NP_001275660.1:n.1230+221A>G | |
| NM_004938.3:c.1230+221A>G | NP_004929.2:n.1230+221A>G | |
| XM_005251757.2:c.1230+221A>G | XP_005251814.1:n.1230+221A>G | |
| XM_005251757.4:c.1230+221A>G | XP_005251814.1:n.1230+221A>G | |
| NM_004938.4:c.1230+221A>G MANE Select | NP_004929.2:n.1230+221A>G | |
| NM_001288730.2:c.1230+221A>G | NP_001275659.1:n.1230+221A>G | |
| NM_001288731.2:c.1230+221A>G | NP_001275660.1:n.1230+221A>G | |
| NM_001288729.2:c.1230+221A>G | NP_001275658.1:n.1230+221A>G |