Linked Data
dbSNP Id:
rs145381362
gnomAD v2:
12-12873453-T-G
gnomAD v3:
12-12720519-T-G
gnomAD v4:
12-12720519-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12720519T>G , CM000674.2:g.12720519T>G | GRCh38 |
| NC_000012.11:g.12873453T>G , CM000674.1:g.12873453T>G | GRCh37 |
| NC_000012.10:g.12764720T>G | NCBI36 |
| NG_016341.1:g.8152T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.*1573T>G | ENSP00000507272.1:n.*1573T>G | |
| ENST00000682620.1:n.1761-517T>G | ||
| ENST00000684771.1:n.715-517T>G | ||
| ENST00000228872.9:c.*9-517T>G MANE Select | ENSP00000228872.4:n.*9-517T>G | |
| ENST00000228872.8:c.*9-517T>G | ENSP00000228872.4:n.*9-517T>G | |
| ENST00000396340.1:c.476-546T>G | ENSP00000379629.1:n.476-546T>G | |
| ENST00000442489.1:c.324-517T>G | ENSP00000407597.1:n.324-517T>G | |
| ENST00000477087.1:n.285-517T>G | ||
| NM_004064.4:c.*9-517T>G | NP_004055.1:n.*9-517T>G | |
| NM_004064.5:c.*9-517T>G MANE Select | NP_004055.1:n.*9-517T>G |