Linked Data
ClinVar Variation Id:
490815
dbSNP Id:
rs144993791
ExAC:
3:52437239 T / A
gnomAD v2:
3-52437239-T-A
gnomAD v3:
3-52403223-T-A
gnomAD v4:
3-52403223-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403223T>A , CM000665.2:g.52403223T>A | GRCh38 |
| NC_000003.11:g.52437239T>A , CM000665.1:g.52437239T>A | GRCh37 |
| NC_000003.10:g.52412279T>A | NCBI36 |
| NG_031859.1:g.11771A>T , LRG_529:g.11771A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1805A>T MANE Select | ENSP00000417132.1:p.Glu602Val | |
| ENST00000296288.9:c.1751A>T | ENSP00000296288.5:p.Glu584Val | |
| ENST00000460680.5:c.1805A>T | ENSP00000417132.1:p.Glu602Val | |
| ENST00000466093.1:n.212A>T | ||
| ENST00000469613.5:c.120-382A>T | ||
| ENST00000478368.1:c.308A>T | ENSP00000420647.1:p.Glu103Val | |
| NM_004656.3:c.1805A>T | NP_004647.1:p.Glu602Val | |
| XM_011534149.1:c.1805A>T | XP_011532451.1:p.Glu602Val | |
| XM_011534150.1:c.1805A>T | XP_011532452.1:p.Glu602Val | |
| XM_011534151.1:c.1751A>T | XP_011532453.1:p.Glu584Val | |
| XM_011534152.1:c.1805A>T | XP_011532454.1:p.Glu602Val | |
| XM_011534149.3:c.1805A>T | XP_011532451.1:p.Glu602Val | |
| XM_011534150.3:c.1805A>T | XP_011532452.1:p.Glu602Val | |
| XM_011534151.3:c.1751A>T | XP_011532453.1:p.Glu584Val | |
| XM_011534152.2:c.1805A>T | XP_011532454.1:p.Glu602Val | |
| XM_017007303.2:c.1751A>T | XP_016862792.1:p.Glu584Val | |
| NM_004656.4:c.1805A>T MANE Select | NP_004647.1:p.Glu602Val |