Linked Data
ClinVar Variation Id:
2169816
dbSNP Id:
rs143825889
gnomAD v3:
7-143342073-C-G
gnomAD v4:
7-143342073-C-G
COSMIC:
COSM1312780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143342073C>G , CM000669.2:g.143342073C>G | GRCh38 |
| NC_000007.13:g.143039166C>G , CM000669.1:g.143039166C>G | GRCh37 |
| NC_000007.12:g.142749288C>G | NCBI36 |
| NG_009815.1:g.30948C>G | |
| NG_009815.2:g.30948C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1727C>G | ENSP00000498052.2:p.Ser576Cys | |
| ENST00000343257.7:c.1727C>G MANE Select | ENSP00000339867.2:p.Ser576Cys | |
| ENST00000432192.6:c.1551C>G | ||
| ENST00000343257.6:c.1727C>G | ENSP00000339867.2:p.Ser576Cys | |
| NM_000083.2:c.1727C>G | NP_000074.2:p.Ser576Cys | |
| NR_046453.1:n.1667C>G | ||
| XM_011515781.1:c.1751C>G | XP_011514083.1:p.Ser584Cys | |
| XM_011515782.1:c.473C>G | XP_011514084.1:p.Ser158Cys | |
| XM_011515782.2:c.473C>G | XP_011514084.1:p.Ser158Cys | |
| XM_017011739.1:c.1301C>G | XP_016867228.1:p.Ser434Cys | |
| XM_017011740.1:c.1277C>G | XP_016867229.1:p.Ser426Cys | |
| NM_000083.3:c.1727C>G MANE Select | NP_000074.3:p.Ser576Cys | |
| NR_046453.2:n.1682C>G |