Linked Data
dbSNP Id:
rs780805780
ExAC:
16:14042004 T / G
gnomAD v2:
16-14042004-T-G
gnomAD v3:
16-13948147-T-G
gnomAD v4:
16-13948147-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948147T>G , CM000678.2:g.13948147T>G | GRCh38 |
| NC_000016.9:g.14042004T>G , CM000678.1:g.14042004T>G | GRCh37 |
| NC_000016.8:g.13949505T>G | NCBI36 |
| NG_011442.1:g.32991T>G , LRG_463:g.32991T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2689T>G | ENSP00000507912.1:p.Phe897Val | |
| ENST00000683962.1:c.*2245T>G | ENSP00000506854.1:n.*2245T>G | |
| ENST00000311895.8:c.2551T>G MANE Select | ENSP00000310520.7:p.Phe851Val | |
| ENST00000311895.7:c.2551T>G | ENSP00000310520.7:p.Phe851Val | |
| ENST00000389138.7:n.1828T>G | ||
| NM_005236.2:c.2551T>G , LRG_463t1:c.2551T>G | NP_005227.1:p.Phe851Val | |
| XM_011522424.1:c.2689T>G | XP_011520726.1:p.Phe897Val | |
| XM_011522425.1:c.2008T>G | XP_011520727.1:p.Phe670Val | |
| XM_011522426.1:c.1762T>G | XP_011520728.1:p.Phe588Val | |
| XM_011522427.1:c.1201T>G | XP_011520729.1:p.Phe401Val | |
| XR_932805.1:n.2710T>G | ||
| XM_011522424.3:c.2689T>G | XP_011520726.1:p.Phe897Val | |
| XM_017023043.2:c.1762T>G | XP_016878532.1:p.Phe588Val | |
| NM_005236.3:c.2551T>G MANE Select | NP_005227.1:p.Phe851Val |