Linked Data
ClinVar Variation Id:
910076
ClinVar RCV Id:
RCV001161646
dbSNP Id:
rs1316380335
gnomAD v2:
7-143039037-C-G
gnomAD v3:
7-143341944-C-G
gnomAD v4:
7-143341944-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341944C>G , CM000669.2:g.143341944C>G | GRCh38 |
| NC_000007.13:g.143039037C>G , CM000669.1:g.143039037C>G | GRCh37 |
| NC_000007.12:g.142749159C>G | NCBI36 |
| NG_009815.1:g.30819C>G | |
| NG_009815.2:g.30819C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1598C>G | ENSP00000498052.2:p.Thr533Ser | |
| ENST00000343257.7:c.1598C>G MANE Select | ENSP00000339867.2:p.Thr533Ser | |
| ENST00000432192.6:c.1422C>G | ||
| ENST00000343257.6:c.1598C>G | ENSP00000339867.2:p.Thr533Ser | |
| NM_000083.2:c.1598C>G | NP_000074.2:p.Thr533Ser | |
| NR_046453.1:n.1538C>G | ||
| XM_011515781.1:c.1622C>G | XP_011514083.1:p.Thr541Ser | |
| XM_011515782.1:c.344C>G | XP_011514084.1:p.Thr115Ser | |
| XM_011515782.2:c.344C>G | XP_011514084.1:p.Thr115Ser | |
| XM_017011739.1:c.1172C>G | XP_016867228.1:p.Thr391Ser | |
| XM_017011740.1:c.1148C>G | XP_016867229.1:p.Thr383Ser | |
| NM_000083.3:c.1598C>G MANE Select | NP_000074.3:p.Thr533Ser | |
| NR_046453.2:n.1553C>G |