Linked Data
ClinVar Variation Id:
126529
dbSNP Id:
rs587777294
ExAC:
3:119205693 C / T
gnomAD v2:
3-119205693-C-T
gnomAD v3:
3-119486846-C-T
gnomAD v4:
3-119486846-C-T
COSMIC:
COSM1036741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119486846C>T , CM000665.2:g.119486846C>T | GRCh38 |
| NC_000003.11:g.119205693C>T , CM000665.1:g.119205693C>T | GRCh37 |
| NC_000003.10:g.120688383C>T | NCBI36 |
| NG_034115.1:g.22909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295588.9:c.652C>T MANE Select | ENSP00000295588.4:p.Arg218Ter | |
| ENST00000647766.1:c.*372C>T | ENSP00000498165.1:n.*372C>T | |
| ENST00000295588.8:c.652C>T | ENSP00000295588.4:p.Arg218Ter | |
| ENST00000486607.5:c.*303C>T | ENSP00000419876.1:n.*303C>T | |
| ENST00000497447.5:c.*372C>T | ENSP00000419288.1:n.*372C>T | |
| NM_152305.2:c.652C>T | NP_689518.1:p.Arg218Ter | |
| NR_024265.1:n.879C>T | ||
| XM_006713704.2:c.175C>T | XP_006713767.1:p.Arg59Ter | |
| XM_006713705.2:c.175C>T | XP_006713768.1:p.Arg59Ter | |
| XM_011512997.1:c.652C>T | XP_011511299.1:p.Arg218Ter | |
| XM_006713705.3:c.175C>T | XP_006713768.1:p.Arg59Ter | |
| XM_017006878.2:c.175C>T | XP_016862367.1:p.Arg59Ter | |
| XM_017006879.1:c.175C>T | XP_016862368.1:p.Arg59Ter | |
| XM_024453643.1:c.175C>T | XP_024309411.1:p.Arg59Ter | |
| XR_001740211.2:n.711C>T | ||
| XR_001740212.2:n.711C>T | ||
| NM_152305.3:c.652C>T MANE Select | NP_689518.1:p.Arg218Ter | |
| NR_024265.2:n.854C>T |