Linked Data
ClinVar Variation Id:
159565
dbSNP Id:
rs181690344
ExAC:
21:47773029 C / T
gnomAD v2:
21-47773029-C-T
gnomAD v3:
21-46353115-C-T
gnomAD v4:
21-46353115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46353115C>T , CM000683.2:g.46353115C>T | GRCh38 |
| NC_000021.8:g.47773029C>T , CM000683.1:g.47773029C>T | GRCh37 |
| NC_000021.7:g.46597457C>T | NCBI36 |
| NG_008961.1:g.33994C>T | |
| NG_008961.2:g.33994C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466474.6:c.1356C>T | ENSP00000511987.1:p.Ser452= | |
| ENST00000695525.1:n.1554C>T | ||
| ENST00000695526.1:c.1393C>T | ENSP00000511988.1:p.Gln465Ter | |
| ENST00000695558.1:c.1468C>T | ENSP00000512015.1:p.Gln490Ter | |
| ENST00000703224.1:c.*711C>T | ENSP00000515242.1:n.*711C>T | |
| ENST00000359568.10:c.1468C>T MANE Select | ENSP00000352572.5:p.Gln490Ter | |
| ENST00000359568.9:c.1468C>T | ENSP00000352572.5:p.Gln490Ter | |
| ENST00000466474.5:n.707C>T | ||
| ENST00000480896.5:n.1737C>T | ||
| ENST00000483844.1:n.523C>T | ||
| NM_001315529.1:c.1114C>T | NP_001302458.1:p.Gln372Ter | |
| NM_006031.5:c.1468C>T | NP_006022.3:p.Gln490Ter | |
| XM_005261124.3:c.1468C>T | XP_005261181.1:p.Gln490Ter | |
| XM_011529593.1:c.1549C>T | XP_011527895.1:p.Gln517Ter | |
| XM_011529594.1:c.1549C>T | XP_011527896.1:p.Gln517Ter | |
| XM_005261124.5:c.1468C>T | XP_005261181.1:p.Gln490Ter | |
| XM_011529594.3:c.1549C>T | XP_011527896.1:p.Gln517Ter | |
| XM_017028362.2:c.1468C>T | XP_016883851.1:p.Gln490Ter | |
| XM_017028363.1:c.1114C>T | XP_016883852.1:p.Gln372Ter | |
| XM_024452082.1:c.352C>T | XP_024307850.1:p.Gln118Ter | |
| XM_024452083.1:c.-753C>T | XP_024307851.1:n.-753C>T | |
| NM_006031.6:c.1468C>T MANE Select | NP_006022.3:p.Gln490Ter | |
| NM_001315529.2:c.1114C>T | NP_001302458.1:p.Gln372Ter |