Linked Data
ClinVar Variation Id:
1747031
dbSNP Id:
rs768645024
gnomAD v2:
3-38888204-C-T
gnomAD v4:
3-38846713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846713C>T , CM000665.2:g.38846713C>T | GRCh38 |
| NC_000003.11:g.38888204C>T , CM000665.1:g.38888204C>T | GRCh37 |
| NC_000003.10:g.38863208C>T | NCBI36 |
| NG_033859.1:g.108849G>A | |
| NG_033859.2:g.210274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5357G>A MANE Select | ENSP00000307599.3:p.Gly1786Asp | |
| ENST00000668754.1:c.5357G>A | ENSP00000499569.1:p.Gly1786Asp | |
| ENST00000675223.1:c.5436G>A | ENSP00000502481.1:n.5436G>A | |
| ENST00000675672.1:c.5411G>A | ENSP00000502446.1:n.5411G>A | |
| ENST00000675892.1:c.5177G>A | ENSP00000502318.1:p.Gly1726Asp | |
| ENST00000676045.1:c.5401G>A | ENSP00000501685.1:n.5401G>A | |
| ENST00000676176.1:c.4976G>A | ENSP00000501891.1:p.Gly1659Asp | |
| ENST00000302328.7:c.5357G>A | ENSP00000307599.3:p.Gly1786Asp | |
| ENST00000456224.7:c.5243G>A | ENSP00000416757.3:p.Gly1748Asp | |
| NM_001287223.1:c.5357G>A | NP_001274152.1:p.Gly1786Asp | |
| NM_014139.2:c.5357G>A | NP_054858.2:p.Gly1786Asp | |
| XM_011533320.1:c.5357G>A | XP_011531622.1:p.Gly1786Asp | |
| XM_011533321.1:c.4694G>A | XP_011531623.1:p.Gly1565Asp | |
| XM_011533322.1:c.3905G>A | XP_011531624.1:p.Gly1302Asp | |
| NM_001349253.1:c.5357G>A | NP_001336182.1:p.Gly1786Asp | |
| XM_011533321.2:c.4694G>A | XP_011531623.1:p.Gly1565Asp | |
| XM_017005647.1:c.5732G>A | XP_016861136.1:p.Gly1911Asp | |
| XM_017005648.1:c.5159G>A | XP_016861137.1:p.Gly1720Asp | |
| XM_017005650.1:c.5357G>A | XP_016861139.1:p.Gly1786Asp | |
| XM_017005651.1:c.5084G>A | XP_016861140.1:p.Gly1695Asp | |
| XM_017005653.1:c.3761G>A | XP_016861142.1:p.Gly1254Asp | |
| NM_001349253.2:c.5357G>A MANE Select | NP_001336182.1:p.Gly1786Asp | |
| NM_014139.3:c.5357G>A | NP_054858.2:p.Gly1786Asp |