Linked Data
ClinVar Variation Id:
144052
ClinVar RCV Id:
RCV000133557
dbSNP Id:
rs369721476
ExAC:
16:31473667 C / T
gnomAD v2:
16-31473667-C-T
gnomAD v3:
16-31462346-C-T
gnomAD v4:
16-31462346-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462346C>T , CM000678.2:g.31462346C>T | GRCh38 |
| NC_000016.9:g.31473667C>T , CM000678.1:g.31473667C>T | GRCh37 |
| NC_000016.8:g.31381168C>T | NCBI36 |
| NG_034258.1:g.9074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.799C>T MANE Select | ENSP00000268314.4:p.Arg267Ter | |
| ENST00000268314.8:c.799C>T | ENSP00000268314.4:p.Arg267Ter | |
| ENST00000408912.7:c.1084C>T | ENSP00000386125.3:p.Arg362Ter | |
| ENST00000457010.6:c.799C>T | ENSP00000399561.2:p.Arg267Ter | |
| ENST00000538189.5:c.307C>T | ENSP00000443995.2:p.Arg103Ter | |
| ENST00000563544.5:c.799C>T | ENSP00000456877.1:p.Arg267Ter | |
| ENST00000564900.1:c.212+151C>T | ||
| NM_001105247.1:c.799C>T | NP_001098717.1:p.Arg267Ter | |
| NM_001288767.1:c.1084C>T | NP_001275696.1:p.Arg362Ter | |
| NM_001301820.1:c.895C>T | NP_001288749.1:p.Arg299Ter | |
| NM_024742.2:c.799C>T | NP_079018.1:p.Arg267Ter | |
| XM_006721091.1:c.895C>T | XP_006721154.1:p.Arg299Ter | |
| XM_006721091.3:c.895C>T | XP_006721154.1:p.Arg299Ter | |
| XM_024450448.1:c.895C>T | XP_024306216.1:p.Arg299Ter | |
| XM_024450449.1:c.895C>T | XP_024306217.1:p.Arg299Ter | |
| NM_001105247.2:c.799C>T MANE Select | NP_001098717.1:p.Arg267Ter | |
| NM_001288767.2:c.1084C>T | NP_001275696.1:p.Arg362Ter |