Linked Data
ClinVar Variation Id:
541264
dbSNP Id:
rs201068823
ExAC:
3:25778931 C / A
gnomAD v2:
3-25778931-C-A
gnomAD v3:
3-25737440-C-A
gnomAD v4:
3-25737440-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25737440C>A , CM000665.2:g.25737440C>A | GRCh38 |
| NC_000003.11:g.25778931C>A , CM000665.1:g.25778931C>A | GRCh37 |
| NC_000003.10:g.25753935C>A | NCBI36 |
| NG_034108.1:g.57600G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.897G>T MANE Select | ENSP00000280700.5:p.Glu299Asp | |
| ENST00000463611.2:c.*988G>T | ENSP00000501918.1:n.*988G>T | |
| ENST00000674841.1:n.1020G>T | ||
| ENST00000675178.1:n.168-3458G>T | ||
| ENST00000675217.1:c.*270G>T | ENSP00000502195.1:n.*270G>T | |
| ENST00000675234.1:c.*394G>T | ENSP00000502740.1:n.*394G>T | |
| ENST00000675680.1:c.391-1040G>T | ||
| ENST00000676225.1:c.882-1040G>T | ENSP00000501622.1:n.882-1040G>T | |
| ENST00000280699.13:c.648G>T | ||
| ENST00000280700.9:c.897G>T | ENSP00000280700.5:p.Glu299Asp | |
| ENST00000308710.9:c.888G>T | ENSP00000307980.5:p.Glu296Asp | |
| ENST00000396649.7:c.897G>T | ENSP00000379886.3:p.Glu299Asp | |
| ENST00000417874.6:c.771G>T | ENSP00000389888.2:p.Glu257Asp | |
| ENST00000428257.5:c.897G>T | ENSP00000387430.1:p.Glu299Asp | |
| ENST00000493324.5:n.921G>T | ||
| NM_001145293.1:c.897G>T | NP_001138765.1:p.Glu299Asp | |
| NM_001145294.1:c.771G>T | NP_001138766.1:p.Glu257Asp | |
| NM_001145295.1:c.897G>T | NP_001138767.1:p.Glu299Asp | |
| NM_018297.3:c.897G>T | NP_060767.2:p.Glu299Asp | |
| XM_005265316.1:c.897G>T | XP_005265373.1:p.Glu299Asp | |
| XM_005265317.1:c.897G>T | XP_005265374.1:p.Glu299Asp | |
| XM_011533944.1:c.666G>T | XP_011532246.1:p.Glu222Asp | |
| XM_011533945.1:c.897G>T | XP_011532247.1:p.Glu299Asp | |
| XR_940470.1:n.950G>T | ||
| XR_940471.1:n.950G>T | ||
| XM_017006839.2:c.897G>T | XP_016862328.1:p.Glu299Asp | |
| XR_001740200.2:n.950G>T | ||
| XR_002959548.1:n.950G>T | ||
| XR_940471.2:n.950G>T | ||
| NM_018297.4:c.897G>T MANE Select | NP_060767.2:p.Glu299Asp | |
| NM_001145293.2:c.897G>T | NP_001138765.1:p.Glu299Asp | |
| NM_001145294.2:c.771G>T | NP_001138766.1:p.Glu257Asp | |
| NM_001145295.2:c.897G>T | NP_001138767.1:p.Glu299Asp |