Linked Data
ClinVar Variation Id:
2439206
ClinVar RCV Id:
RCV003141541
dbSNP Id:
rs539440145
ExAC:
16:31473868 C / T
gnomAD v2:
16-31473868-C-T
gnomAD v3:
16-31462547-C-T
gnomAD v4:
16-31462547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462547C>T , CM000678.2:g.31462547C>T | GRCh38 |
| NC_000016.9:g.31473868C>T , CM000678.1:g.31473868C>T | GRCh37 |
| NC_000016.8:g.31381369C>T | NCBI36 |
| NG_034258.1:g.9275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1000C>T MANE Select | ENSP00000268314.4:p.Arg334Cys | |
| ENST00000268314.8:c.1000C>T | ENSP00000268314.4:p.Arg334Cys | |
| ENST00000408912.7:c.1285C>T | ENSP00000386125.3:p.Arg429Cys | |
| ENST00000457010.6:c.1000C>T | ENSP00000399561.2:p.Arg334Cys | |
| ENST00000538189.5:c.508C>T | ENSP00000443995.2:p.Arg170Cys | |
| ENST00000563544.5:c.1000C>T | ENSP00000456877.1:p.Arg334Cys | |
| ENST00000564900.1:c.213-225C>T | ||
| NM_001105247.1:c.1000C>T | NP_001098717.1:p.Arg334Cys | |
| NM_001288767.1:c.1285C>T | NP_001275696.1:p.Arg429Cys | |
| NM_001301820.1:c.1096C>T | NP_001288749.1:p.Arg366Cys | |
| NM_024742.2:c.1000C>T | NP_079018.1:p.Arg334Cys | |
| XM_006721091.1:c.1096C>T | XP_006721154.1:p.Arg366Cys | |
| XM_006721091.3:c.1096C>T | XP_006721154.1:p.Arg366Cys | |
| XM_024450448.1:c.1096C>T | XP_024306216.1:p.Arg366Cys | |
| XM_024450449.1:c.1096C>T | XP_024306217.1:p.Arg366Cys | |
| NM_001105247.2:c.1000C>T MANE Select | NP_001098717.1:p.Arg334Cys | |
| NM_001288767.2:c.1285C>T | NP_001275696.1:p.Arg429Cys |