Linked Data
ClinVar Variation Id:
2047788
dbSNP Id:
rs776287053
ExAC:
7:143048712 C / G
gnomAD v2:
7-143048712-C-G
gnomAD v4:
7-143351619-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351619C>G , CM000669.2:g.143351619C>G | GRCh38 |
| NC_000007.13:g.143048712C>G , CM000669.1:g.143048712C>G | GRCh37 |
| NC_000007.12:g.142758834C>G | NCBI36 |
| NG_009815.1:g.40494C>G | |
| NG_009815.2:g.40494C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2621C>G | ENSP00000498052.2:p.Thr874Ser | |
| ENST00000343257.7:c.2621C>G MANE Select | ENSP00000339867.2:p.Thr874Ser | |
| ENST00000432192.6:c.2445C>G | ||
| ENST00000343257.6:c.2621C>G | ENSP00000339867.2:p.Thr874Ser | |
| NM_000083.2:c.2621C>G | NP_000074.2:p.Thr874Ser | |
| NR_046453.1:n.2561C>G | ||
| XM_011515781.1:c.2645C>G | XP_011514083.1:p.Thr882Ser | |
| XM_011515782.1:c.1367C>G | XP_011514084.1:p.Thr456Ser | |
| XM_011515782.2:c.1367C>G | XP_011514084.1:p.Thr456Ser | |
| XM_017011739.1:c.2195C>G | XP_016867228.1:p.Thr732Ser | |
| XM_017011740.1:c.2171C>G | XP_016867229.1:p.Thr724Ser | |
| NM_000083.3:c.2621C>G MANE Select | NP_000074.3:p.Thr874Ser | |
| NR_046453.2:n.2576C>G |