Linked Data
ClinVar Variation Id:
2624921
ClinVar RCV Id:
RCV003377600
dbSNP Id:
rs779052263
gnomAD v4:
3-179199164-C-T
MyVariant Identifiers:
chr3:g.178916952C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199164C>T , CM000665.2:g.179199164C>T | GRCh38 |
| NC_000003.11:g.178916952C>T , CM000665.1:g.178916952C>T | GRCh37 |
| NC_000003.10:g.180399646C>T | NCBI36 |
| NG_012113.2:g.55642C>T , LRG_310:g.55642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.339C>T MANE Select | ENSP00000263967.3:p.Leu113= | |
| ENST00000643187.1:c.339C>T | ENSP00000493507.1:p.Leu113= | |
| ENST00000675467.1:n.3146C>T | ||
| ENST00000675786.1:c.339C>T | ENSP00000502323.1:p.Leu113= | |
| ENST00000263967.3:c.339C>T | ENSP00000263967.3:p.Leu113= | |
| ENST00000468036.1:c.339C>T | ENSP00000417479.1:p.Leu113= | |
| NM_006218.2:c.339C>T , LRG_310t1:c.339C>T | NP_006209.2:p.Leu113= | |
| XM_006713658.2:c.339C>T | XP_006713721.1:p.Leu113= | |
| XM_011512894.1:c.339C>T | XP_011511196.1:p.Leu113= | |
| NM_006218.3:c.339C>T | NP_006209.2:p.Leu113= | |
| XM_006713658.4:c.339C>T | XP_006713721.1:p.Leu113= | |
| XM_011512894.2:c.339C>T | XP_011511196.1:p.Leu113= | |
| NM_006218.4:c.339C>T MANE Select | NP_006209.2:p.Leu113= |