Linked Data
dbSNP Id:
rs766476386
ExAC:
10:124266365 A / G
gnomAD v2:
10-124266365-A-G
gnomAD v3:
10-122506849-A-G
gnomAD v4:
10-122506849-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506849A>G , CM000672.2:g.122506849A>G | GRCh38 |
| NC_000010.10:g.124266365A>G , CM000672.1:g.124266365A>G | GRCh37 |
| NC_000010.9:g.124256355A>G | NCBI36 |
| NG_011554.1:g.50325A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.936A>G MANE Select | ENSP00000357980.3:p.Ser312= | |
| ENST00000648167.1:c.618A>G | ENSP00000498033.1:p.Ser206= | |
| ENST00000368984.7:c.936A>G | ENSP00000357980.3:p.Ser312= | |
| ENST00000420892.1:c.159A>G | ENSP00000412676.1:p.Ser53= | |
| NM_002775.4:c.936A>G | NP_002766.1:p.Ser312= | |
| NM_002775.5:c.936A>G MANE Select | NP_002766.1:p.Ser312= |