Linked Data
dbSNP Id:
rs760643798
ExAC:
3:124951872 T / G
gnomAD v2:
3-124951872-T-G
gnomAD v3:
3-125233028-T-G
gnomAD v4:
3-125233028-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.125233028T>G , CM000665.2:g.125233028T>G | GRCh38 |
| NC_000003.11:g.124951872T>G , CM000665.1:g.124951872T>G | GRCh37 |
| NC_000003.10:g.126434562T>G | NCBI36 |
| NG_052987.1:g.147327A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471196.2:c.1698A>C | ENSP00000420038.2:p.Glu566Asp | |
| ENST00000700044.1:c.1698A>C | ENSP00000514760.1:p.Glu566Asp | |
| ENST00000360647.9:c.1698A>C MANE Select | ENSP00000353863.4:p.Glu566Asp | |
| ENST00000360647.8:c.1698A>C | ENSP00000353863.4:p.Glu566Asp | |
| ENST00000468369.5:c.122-374A>C | ENSP00000420102.1:n.122-374A>C | |
| ENST00000484491.5:c.1698A>C | ENSP00000420335.1:p.Glu566Asp | |
| ENST00000485866.5:c.1698A>C | ENSP00000420448.1:p.Glu566Asp | |
| ENST00000492394.5:c.1698A>C | ENSP00000419322.1:p.Glu566Asp | |
| ENST00000496732.1:n.173+81A>C | ||
| ENST00000497929.1:n.1694A>C | ||
| ENST00000544464.5:c.*331A>C | ENSP00000437916.2:n.*331A>C | |
| NM_021964.2:c.1698A>C | NP_068799.2:p.Glu566Asp | |
| NM_001348424.1:c.1698A>C | NP_001335353.1:p.Glu566Asp | |
| NM_001348425.2:c.1698A>C | NP_001335354.1:p.Glu566Asp | |
| NM_001348426.2:c.1698A>C | NP_001335355.1:p.Glu566Asp | |
| NM_001348427.2:c.1698A>C | NP_001335356.1:p.Glu566Asp | |
| NM_001348428.2:c.1698A>C | NP_001335357.1:p.Glu566Asp | |
| NM_001348429.2:c.1698A>C | NP_001335358.1:p.Glu566Asp | |
| NM_001348430.2:c.1698A>C | NP_001335359.1:p.Glu566Asp | |
| NM_001348431.2:c.1698A>C | NP_001335360.1:p.Glu566Asp | |
| NM_001348432.2:c.1698A>C | NP_001335361.1:p.Glu566Asp | |
| NM_001348433.2:c.1698A>C | NP_001335362.1:p.Glu566Asp | |
| NM_001348434.2:c.1572A>C | NP_001335363.1:p.Glu524Asp | |
| NM_021964.3:c.1698A>C MANE Select | NP_068799.2:p.Glu566Asp |