Linked Data
ClinVar Variation Id:
4161
dbSNP Id:
rs119470019
ExAC:
3:158363475 C / T
gnomAD v2:
3-158363475-C-T
gnomAD v3:
3-158645686-C-T
gnomAD v4:
3-158645686-C-T
PubMed:
PMID:17160893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158645686C>T , CM000665.2:g.158645686C>T | GRCh38 |
| NC_000003.11:g.158363475C>T , CM000665.1:g.158363475C>T | GRCh37 |
| NC_000003.10:g.159846169C>T | NCBI36 |
| NG_008441.1:g.6159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.139C>T MANE Select | ENSP00000419038.1:p.Arg47Ter | |
| ENST00000264263.9:c.139C>T | ENSP00000264263.5:p.Arg47Ter | |
| ENST00000464732.1:c.-87C>T | ENSP00000417532.1:n.-87C>T | |
| ENST00000478254.5:c.139C>T | ENSP00000417225.1:p.Arg47Ter | |
| ENST00000478576.5:c.139C>T | ENSP00000418755.1:p.Arg47Ter | |
| ENST00000486715.5:c.139C>T | ENSP00000419038.1:p.Arg47Ter | |
| NM_001308164.1:c.139C>T | NP_001295093.1:p.Arg47Ter | |
| NM_001308166.1:c.139C>T | NP_001295095.1:p.Arg47Ter | |
| NM_024996.5:c.139C>T | NP_079272.4:p.Arg47Ter | |
| XM_006713795.1:c.139C>T | XP_006713858.1:p.Arg47Ter | |
| XM_006713795.2:c.139C>T | XP_006713858.1:p.Arg47Ter | |
| NM_001374355.1:c.139C>T | NP_001361284.1:p.Arg47Ter | |
| NM_001374356.1:c.139C>T | NP_001361285.1:p.Arg47Ter | |
| NM_001374357.1:c.-87C>T | NP_001361286.1:n.-87C>T | |
| NM_001374358.1:c.139C>T | NP_001361287.1:p.Arg47Ter | |
| NM_001374359.1:c.-91C>T | NP_001361288.1:n.-91C>T | |
| NM_001374360.1:c.-91C>T | NP_001361289.1:n.-91C>T | |
| NM_001374361.1:c.-91C>T | NP_001361290.1:n.-91C>T | |
| NM_024996.7:c.139C>T MANE Select | NP_079272.4:p.Arg47Ter | |
| NR_164499.1:n.247C>T | ||
| NR_164500.1:n.247C>T | ||
| NR_164501.1:n.247C>T | ||
| NR_164502.1:n.247C>T | ||
| NM_001308164.2:c.139C>T | NP_001295093.1:p.Arg47Ter | |
| NM_001308166.2:c.139C>T | NP_001295095.1:p.Arg47Ter |