Linked Data
dbSNP Id:
rs762943928
ExAC:
7:143027889 C / G
gnomAD v2:
7-143027889-C-G
gnomAD v4:
7-143330796-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330796C>G , CM000669.2:g.143330796C>G | GRCh38 |
| NC_000007.13:g.143027889C>G , CM000669.1:g.143027889C>G | GRCh37 |
| NC_000007.12:g.142738011C>G | NCBI36 |
| NG_009815.1:g.19671C>G | |
| NG_009815.2:g.19671C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.878C>G | ENSP00000498052.2:p.Thr293Ser | |
| ENST00000343257.7:c.878C>G MANE Select | ENSP00000339867.2:p.Thr293Ser | |
| ENST00000432192.6:c.702C>G | ||
| ENST00000455478.6:c.466C>G | ENSP00000400027.2:n.466C>G | |
| ENST00000650516.1:c.878C>G | ENSP00000498052.1:p.Thr293Ser | |
| ENST00000343257.6:c.878C>G | ENSP00000339867.2:p.Thr293Ser | |
| ENST00000432192.5:c.392C>G | ||
| ENST00000455478.5:c.470C>G | ||
| ENST00000495612.1:n.179C>G | ||
| NM_000083.2:c.878C>G | NP_000074.2:p.Thr293Ser | |
| NR_046453.1:n.968C>G | ||
| XM_011515781.1:c.878C>G | XP_011514083.1:p.Thr293Ser | |
| XM_017011739.1:c.428C>G | XP_016867228.1:p.Thr143Ser | |
| XM_017011740.1:c.428C>G | XP_016867229.1:p.Thr143Ser | |
| NM_000083.3:c.878C>G MANE Select | NP_000074.3:p.Thr293Ser | |
| NR_046453.2:n.983C>G |