Linked Data
ClinVar Variation Id:
1407698
ClinVar RCV Id:
RCV001937859
dbSNP Id:
rs771047395
ExAC:
21:47831778 C / T
gnomAD v2:
21-47831778-C-T
gnomAD v3:
21-46411864-C-T
gnomAD v4:
21-46411864-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46411864C>T , CM000683.2:g.46411864C>T | GRCh38 |
| NC_000021.8:g.47831778C>T , CM000683.1:g.47831778C>T | GRCh37 |
| NC_000021.7:g.46656206C>T | NCBI36 |
| NG_008961.1:g.92743C>T | |
| NG_008961.2:g.92743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695527.1:n.136C>T | ||
| ENST00000695558.1:c.5824C>T | ENSP00000512015.1:p.Arg1942Cys | |
| ENST00000703224.1:c.*5034C>T | ENSP00000515242.1:n.*5034C>T | |
| ENST00000359568.10:c.5791C>T MANE Select | ENSP00000352572.5:p.Arg1931Cys | |
| ENST00000359568.9:c.5791C>T | ENSP00000352572.5:p.Arg1931Cys | |
| ENST00000480896.5:n.6060C>T | ||
| NM_001315529.1:c.5437C>T | NP_001302458.1:p.Arg1813Cys | |
| NM_006031.5:c.5791C>T | NP_006022.3:p.Arg1931Cys | |
| XM_005261124.3:c.5824C>T | XP_005261181.1:p.Arg1942Cys | |
| XM_011529593.1:c.5902C>T | XP_011527895.1:p.Arg1968Cys | |
| XM_011529594.1:c.5872C>T | XP_011527896.1:p.Arg1958Cys | |
| XM_005261124.5:c.5824C>T | XP_005261181.1:p.Arg1942Cys | |
| XM_011529594.3:c.5872C>T | XP_011527896.1:p.Arg1958Cys | |
| XM_017028362.2:c.5791C>T | XP_016883851.1:p.Arg1931Cys | |
| XM_017028363.1:c.5470C>T | XP_016883852.1:p.Arg1824Cys | |
| XM_024452082.1:c.4708C>T | XP_024307850.1:p.Arg1570Cys | |
| XM_024452083.1:c.3604C>T | XP_024307851.1:p.Arg1202Cys | |
| NM_006031.6:c.5791C>T MANE Select | NP_006022.3:p.Arg1931Cys | |
| NM_001315529.2:c.5437C>T | NP_001302458.1:p.Arg1813Cys |