Linked Data
ClinVar Variation Id:
490816
dbSNP Id:
rs759423683
ExAC:
3:52437238 C / T
gnomAD v2:
3-52437238-C-T
gnomAD v3:
3-52403222-C-T
gnomAD v4:
3-52403222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403222C>T , CM000665.2:g.52403222C>T | GRCh38 |
| NC_000003.11:g.52437238C>T , CM000665.1:g.52437238C>T | GRCh37 |
| NC_000003.10:g.52412278C>T | NCBI36 |
| NG_031859.1:g.11772G>A , LRG_529:g.11772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1806G>A MANE Select | ENSP00000417132.1:p.Glu602= | |
| ENST00000296288.9:c.1752G>A | ENSP00000296288.5:p.Glu584= | |
| ENST00000460680.5:c.1806G>A | ENSP00000417132.1:p.Glu602= | |
| ENST00000466093.1:n.213G>A | ||
| ENST00000469613.5:c.120-381G>A | ||
| ENST00000478368.1:c.309G>A | ENSP00000420647.1:p.Glu103= | |
| NM_004656.3:c.1806G>A | NP_004647.1:p.Glu602= | |
| XM_011534149.1:c.1806G>A | XP_011532451.1:p.Glu602= | |
| XM_011534150.1:c.1806G>A | XP_011532452.1:p.Glu602= | |
| XM_011534151.1:c.1752G>A | XP_011532453.1:p.Glu584= | |
| XM_011534152.1:c.1806G>A | XP_011532454.1:p.Glu602= | |
| XM_011534149.3:c.1806G>A | XP_011532451.1:p.Glu602= | |
| XM_011534150.3:c.1806G>A | XP_011532452.1:p.Glu602= | |
| XM_011534151.3:c.1752G>A | XP_011532453.1:p.Glu584= | |
| XM_011534152.2:c.1806G>A | XP_011532454.1:p.Glu602= | |
| XM_017007303.2:c.1752G>A | XP_016862792.1:p.Glu584= | |
| NM_004656.4:c.1806G>A MANE Select | NP_004647.1:p.Glu602= |