Linked Data
dbSNP Id:
rs758038475
gnomAD v2:
1-983213-C-G
gnomAD v3:
1-1047833-C-G
gnomAD v4:
1-1047833-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047833C>G , CM000663.2:g.1047833C>G | GRCh38 |
| NC_000001.10:g.983213C>G , CM000663.1:g.983213C>G | GRCh37 |
| NC_000001.9:g.973076C>G | NCBI36 |
| NG_016346.1:g.32711C>G , LRG_198:g.32711C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3689C>G MANE Select | ENSP00000368678.2:p.Ser1230Cys | |
| ENST00000651234.1:c.3374C>G | ENSP00000499046.1:p.Ser1125Cys | |
| ENST00000652369.1:c.3374C>G | ENSP00000498543.1:p.Ser1125Cys | |
| ENST00000379370.6:c.3689C>G | ENSP00000368678.2:p.Ser1230Cys | |
| ENST00000466223.1:n.427C>G | ||
| ENST00000478677.1:n.271C>G | ||
| ENST00000620552.4:c.3275C>G | ENSP00000484607.1:p.Ser1092Cys | |
| NM_001305275.1:c.3689C>G | NP_001292204.1:p.Ser1230Cys | |
| NM_198576.3:c.3689C>G | NP_940978.2:p.Ser1230Cys | |
| XM_005244749.2:c.3689C>G | XP_005244806.1:p.Ser1230Cys | |
| XM_006710635.2:c.3689C>G | XP_006710698.1:p.Ser1230Cys | |
| XM_011541429.1:c.3689C>G | XP_011539731.1:p.Ser1230Cys | |
| XM_011541430.1:c.2816C>G | XP_011539732.1:p.Ser939Cys | |
| XM_011541431.1:c.1955C>G | XP_011539733.1:p.Ser652Cys | |
| XR_946650.1:n.3756C>G | ||
| NM_001364727.1:c.3374C>G | NP_001351656.1:p.Ser1125Cys | |
| XM_005244749.3:c.3689C>G | XP_005244806.1:p.Ser1230Cys | |
| XM_011541429.2:c.3689C>G | XP_011539731.1:p.Ser1230Cys | |
| XR_946650.2:n.3760C>G | ||
| NM_001305275.2:c.3689C>G | NP_001292204.1:p.Ser1230Cys | |
| NM_198576.4:c.3689C>G MANE Select | NP_940978.2:p.Ser1230Cys | |
| NM_001364727.2:c.3374C>G | NP_001351656.1:p.Ser1125Cys |