Linked Data
dbSNP Id:
rs543685980
gnomAD v2:
1-193173104-G-A
gnomAD v3:
1-193203974-G-A
gnomAD v4:
1-193203974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203974G>A , CM000663.2:g.193203974G>A | GRCh38 |
| NC_000001.10:g.193173104G>A , CM000663.1:g.193173104G>A | GRCh37 |
| NC_000001.9:g.191439727G>A | NCBI36 |
| NG_012691.1:g.87017G>A , LRG_507:g.87017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1030+122G>A MANE Select | ENSP00000356405.4:n.1030+122G>A | |
| ENST00000635846.1:c.787+122G>A | ENSP00000490035.1:n.787+122G>A | |
| ENST00000643006.1:c.1098+122G>A | ENSP00000496633.1:n.1098+122G>A | |
| ENST00000648071.1:c.*1006+122G>A | ENSP00000497513.1:n.*1006+122G>A | |
| ENST00000649613.1:n.280+122G>A | ||
| ENST00000649895.1:n.1248+122G>A | ||
| ENST00000650197.1:c.1030+122G>A | ENSP00000496929.1:n.1030+122G>A | |
| ENST00000367435.3:c.1030+122G>A | ENSP00000356405.3:n.1030+122G>A | |
| NM_024529.4:c.1030+122G>A , LRG_507t1:c.1030+122G>A | NP_078805.3:n.1030+122G>A | |
| NM_024529.5:c.1030+122G>A MANE Select | NP_078805.3:n.1030+122G>A |