Linked Data
dbSNP Id:
rs199574488
ExAC:
21:47786906 C / G
gnomAD v2:
21-47786906-C-G
gnomAD v3:
21-46366991-C-G
gnomAD v4:
21-46366991-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46366991C>G , CM000683.2:g.46366991C>G | GRCh38 |
| NC_000021.8:g.47786906C>G , CM000683.1:g.47786906C>G | GRCh37 |
| NC_000021.7:g.46611334C>G | NCBI36 |
| NG_008961.1:g.47871C>G | |
| NG_008961.2:g.47870C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1513C>G | ENSP00000511987.1:n.*1513C>G | |
| ENST00000695525.1:n.3103C>G | ||
| ENST00000695558.1:c.3017C>G | ENSP00000512015.1:p.Ser1006Cys | |
| ENST00000703224.1:c.*2260C>G | ENSP00000515242.1:n.*2260C>G | |
| ENST00000359568.10:c.3017C>G MANE Select | ENSP00000352572.5:p.Ser1006Cys | |
| ENST00000359568.9:c.3017C>G | ENSP00000352572.5:p.Ser1006Cys | |
| ENST00000480896.5:n.3286C>G | ||
| NM_001315529.1:c.2663C>G | NP_001302458.1:p.Ser888Cys | |
| NM_006031.5:c.3017C>G | NP_006022.3:p.Ser1006Cys | |
| XM_005261124.3:c.3017C>G | XP_005261181.1:p.Ser1006Cys | |
| XM_011529593.1:c.3098C>G | XP_011527895.1:p.Ser1033Cys | |
| XM_011529594.1:c.3098C>G | XP_011527896.1:p.Ser1033Cys | |
| XM_005261124.5:c.3017C>G | XP_005261181.1:p.Ser1006Cys | |
| XM_011529594.3:c.3098C>G | XP_011527896.1:p.Ser1033Cys | |
| XM_017028362.2:c.3017C>G | XP_016883851.1:p.Ser1006Cys | |
| XM_017028363.1:c.2663C>G | XP_016883852.1:p.Ser888Cys | |
| XM_024452082.1:c.1901C>G | XP_024307850.1:p.Ser634Cys | |
| XM_024452083.1:c.797C>G | XP_024307851.1:p.Ser266Cys | |
| NM_006031.6:c.3017C>G MANE Select | NP_006022.3:p.Ser1006Cys | |
| NM_001315529.2:c.2663C>G | NP_001302458.1:p.Ser888Cys |