Linked Data
dbSNP Id:
rs3219218
gnomAD v2:
12-109538235-A-G
gnomAD v3:
12-109100430-A-G
gnomAD v4:
12-109100430-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109100430A>G , CM000674.2:g.109100430A>G | GRCh38 |
| NC_000012.11:g.109538235A>G , CM000674.1:g.109538235A>G | GRCh37 |
| NC_000012.10:g.108022618A>G | NCBI36 |
| NG_007284.1:g.7821A>G , LRG_124:g.7821A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539287.6:c.408+1146A>G | ENSP00000440784.1:n.408+1146A>G | |
| ENST00000699559.1:c.408+1146A>G | ENSP00000514433.1:n.408+1146A>G | |
| ENST00000699560.1:c.313-1472A>G | ENSP00000514434.1:n.313-1472A>G | |
| ENST00000699561.1:c.408+1146A>G | ENSP00000514435.1:n.408+1146A>G | |
| ENST00000699562.1:c.408+1146A>G | ENSP00000514436.1:n.408+1146A>G | |
| ENST00000699563.1:c.408+1146A>G | ENSP00000514437.1:n.408+1146A>G | |
| ENST00000699564.1:c.408+1146A>G | ENSP00000514438.1:n.408+1146A>G | |
| ENST00000699565.1:c.408+1146A>G | ENSP00000514439.1:n.408+1146A>G | |
| ENST00000699566.1:c.513+1146A>G | ENSP00000514440.1:n.513+1146A>G | |
| ENST00000699567.1:c.408+1146A>G | ENSP00000514441.1:n.408+1146A>G | |
| ENST00000242576.7:c.435+1146A>G MANE Select | ENSP00000242576.3:n.435+1146A>G | |
| ENST00000242576.6:c.435+1146A>G | ENSP00000242576.2:n.435+1146A>G | |
| ENST00000336865.6:c.408+1146A>G | ENSP00000337398.2:n.408+1146A>G | |
| ENST00000446767.2:c.408+1146A>G | ENSP00000400287.2:n.408+1146A>G | |
| ENST00000539287.5:c.408+1146A>G | ENSP00000440784.1:n.408+1146A>G | |
| NM_003362.3:c.408+1146A>G | NP_003353.1:n.408+1146A>G | |
| NM_080911.2:c.435+1146A>G | NP_550433.1:n.435+1146A>G | |
| NM_003362.4:c.408+1146A>G | NP_003353.1:n.408+1146A>G | |
| NM_080911.3:c.435+1146A>G MANE Select | NP_550433.1:n.435+1146A>G |