Linked Data
ClinVar Variation Id:
1494923
ClinVar RCV Id:
RCV001989661
dbSNP Id:
rs2108575061
gnomAD v4:
3-179401255-C-T
MyVariant Identifiers:
chr3:g.179119043C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179401255C>T , CM000665.2:g.179401255C>T | GRCh38 |
| NC_000003.11:g.179119043C>T , CM000665.1:g.179119043C>T | GRCh37 |
| NC_000003.10:g.180601737C>T | NCBI36 |
| NG_033163.1:g.55329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.981G>A MANE Select | ENSP00000232564.3:p.Val327= | |
| ENST00000466899.6:c.764G>A | ENSP00000420066.2:n.764G>A | |
| ENST00000468623.6:c.942G>A | ENSP00000419693.2:p.Val314= | |
| ENST00000674713.1:c.873G>A | ENSP00000502144.1:p.Val291= | |
| ENST00000674862.1:c.981G>A | ENSP00000502628.1:p.Val327= | |
| ENST00000676128.1:c.981G>A | ENSP00000501882.1:p.Val327= | |
| ENST00000232564.7:c.981G>A | ENSP00000232564.3:p.Val327= | |
| ENST00000466899.5:c.531G>A | ||
| ENST00000468623.5:c.981G>A | ENSP00000419693.1:p.Val327= | |
| NM_021629.3:c.981G>A | NP_067642.1:p.Val327= | |
| XM_005247692.1:c.981G>A | XP_005247749.1:p.Val327= | |
| XM_006713721.1:c.981G>A | XP_006713784.1:p.Val327= | |
| XM_005247692.2:c.981G>A | XP_005247749.1:p.Val327= | |
| XM_006713721.2:c.981G>A | XP_006713784.1:p.Val327= | |
| NM_021629.4:c.981G>A MANE Select | NP_067642.1:p.Val327= |