Linked Data
ClinVar Variation Id:
144054
ClinVar RCV Id:
RCV000133559
dbSNP Id:
rs587777660
gnomAD v4:
16-31459780-C-T
PubMed:
PMID:24283224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31459780C>T , CM000678.2:g.31459780C>T | GRCh38 |
| NC_000016.9:g.31471101C>T , CM000678.1:g.31471101C>T | GRCh37 |
| NC_000016.8:g.31378602C>T | NCBI36 |
| NG_034258.1:g.6508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.256C>T MANE Select | ENSP00000268314.4:p.Gln86Ter | |
| ENST00000268314.8:c.256C>T | ENSP00000268314.4:p.Gln86Ter | |
| ENST00000408912.7:c.541C>T | ENSP00000386125.3:p.Gln181Ter | |
| ENST00000457010.6:c.256C>T | ENSP00000399561.2:p.Gln86Ter | |
| ENST00000538189.5:c.-211-26C>T | ENSP00000443995.2:n.-211-26C>T | |
| ENST00000563544.5:c.256C>T | ENSP00000456877.1:p.Gln86Ter | |
| NM_001105247.1:c.256C>T | NP_001098717.1:p.Gln86Ter | |
| NM_001288767.1:c.541C>T | NP_001275696.1:p.Gln181Ter | |
| NM_001301820.1:c.352C>T | NP_001288749.1:p.Gln118Ter | |
| NM_024742.2:c.256C>T | NP_079018.1:p.Gln86Ter | |
| XM_006721091.1:c.352C>T | XP_006721154.1:p.Gln118Ter | |
| XM_006721091.3:c.352C>T | XP_006721154.1:p.Gln118Ter | |
| XM_024450448.1:c.352C>T | XP_024306216.1:p.Gln118Ter | |
| XM_024450449.1:c.352C>T | XP_024306217.1:p.Gln118Ter | |
| NM_001105247.2:c.256C>T MANE Select | NP_001098717.1:p.Gln86Ter | |
| NM_001288767.2:c.541C>T | NP_001275696.1:p.Gln181Ter |