Linked Data
ClinVar Variation Id:
490819
dbSNP Id:
rs756450018
ExAC:
3:52437205 C / T
gnomAD v2:
3-52437205-C-T
gnomAD v3:
3-52403189-C-T
gnomAD v4:
3-52403189-C-T
COSMIC:
COSM4119057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403189C>T , CM000665.2:g.52403189C>T | GRCh38 |
| NC_000003.11:g.52437205C>T , CM000665.1:g.52437205C>T | GRCh37 |
| NC_000003.10:g.52412245C>T | NCBI36 |
| NG_031859.1:g.11805G>A , LRG_529:g.11805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1839G>A MANE Select | ENSP00000417132.1:p.Thr613= | |
| ENST00000296288.9:c.1785G>A | ENSP00000296288.5:p.Thr595= | |
| ENST00000460680.5:c.1839G>A | ENSP00000417132.1:p.Thr613= | |
| ENST00000466093.1:n.246G>A | ||
| ENST00000469613.5:c.120-348G>A | ||
| ENST00000478368.1:c.342G>A | ENSP00000420647.1:p.Thr114= | |
| NM_004656.3:c.1839G>A | NP_004647.1:p.Thr613= | |
| XM_011534149.1:c.1839G>A | XP_011532451.1:p.Thr613= | |
| XM_011534150.1:c.1839G>A | XP_011532452.1:p.Thr613= | |
| XM_011534151.1:c.1785G>A | XP_011532453.1:p.Thr595= | |
| XM_011534152.1:c.1839G>A | XP_011532454.1:p.Thr613= | |
| XM_011534149.3:c.1839G>A | XP_011532451.1:p.Thr613= | |
| XM_011534150.3:c.1839G>A | XP_011532452.1:p.Thr613= | |
| XM_011534151.3:c.1785G>A | XP_011532453.1:p.Thr595= | |
| XM_011534152.2:c.1839G>A | XP_011532454.1:p.Thr613= | |
| XM_017007303.2:c.1785G>A | XP_016862792.1:p.Thr595= | |
| NM_004656.4:c.1839G>A MANE Select | NP_004647.1:p.Thr613= |