Linked Data
dbSNP Id:
rs774634852
ExAC:
21:45708338 T / A
gnomAD v2:
21-45708338-T-A
gnomAD v4:
21-44288455-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288455T>A , CM000683.2:g.44288455T>A | GRCh38 |
| NC_000021.8:g.45708338T>A , CM000683.1:g.45708338T>A | GRCh37 |
| NC_000021.7:g.44532766T>A | NCBI36 |
| NG_009556.1:g.7576T>A , LRG_18:g.7576T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.649T>A MANE Select | ENSP00000291582.5:p.Ser217Thr | |
| ENST00000291582.5:c.649T>A | ENSP00000291582.5:p.Ser217Thr | |
| ENST00000527919.5:n.1193T>A | ||
| ENST00000530812.5:n.1201T>A | ||
| NM_000383.3:c.649T>A | NP_000374.1:p.Ser217Thr | |
| XM_011529551.1:c.649T>A | XP_011527853.1:p.Ser217Thr | |
| NM_000383.4:c.649T>A MANE Select | NP_000374.1:p.Ser217Thr |