Linked Data
ClinVar Variation Id:
43335
dbSNP Id:
rs397516332
ExAC:
11:76925653 G / A
gnomAD v2:
11-76925653-G-A
gnomAD v4:
11-77214608-G-A
ERepo:
CA278713/MONDO:0019501/005
PubMed:
PMID:10930322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214608G>A , CM000673.2:g.77214608G>A | GRCh38 |
| NC_000011.9:g.76925653G>A , CM000673.1:g.76925653G>A | GRCh37 |
| NC_000011.8:g.76603301G>A | NCBI36 |
| NG_009086.1:g.91344G>A | |
| NG_009086.2:g.91363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6560G>A MANE Select | ENSP00000386331.3:p.Gly2187Asp | |
| ENST00000670577.1:c.4361G>A | ||
| ENST00000409619.6:c.6413G>A | ENSP00000386635.2:p.Gly2138Asp | |
| ENST00000409709.7:c.6560G>A | ENSP00000386331.3:p.Gly2187Asp | |
| ENST00000458169.2:c.3986G>A | ENSP00000417017.2:p.Gly1329Asp | |
| ENST00000458637.6:c.6440G>A | ENSP00000392185.2:p.Gly2147Asp | |
| ENST00000481328.7:n.5110G>A | ||
| ENST00000605744.1:n.2074G>A | ||
| NM_000260.3:c.6560G>A | NP_000251.3:p.Gly2187Asp | |
| NM_001127180.1:c.6440G>A | NP_001120652.1:p.Gly2147Asp | |
| XM_005274012.2:c.6443G>A | XP_005274069.1:p.Gly2148Asp | |
| XM_006718561.2:c.6446G>A | XP_006718624.1:p.Gly2149Asp | |
| XR_949941.1:n.6854G>A | ||
| XM_017017780.1:c.6650G>A | XP_016873269.1:p.Gly2217Asp | |
| XM_017017784.1:c.6533G>A | XP_016873273.1:p.Gly2178Asp | |
| XM_017017788.1:c.6536G>A | XP_016873277.1:p.Gly2179Asp | |
| XR_001747885.1:n.6639G>A | ||
| XR_001747887.1:n.6625G>A | ||
| NM_000260.4:c.6560G>A MANE Select | NP_000251.3:p.Gly2187Asp | |
| NM_001127180.2:c.6440G>A | NP_001120652.1:p.Gly2147Asp | |
| NM_001369365.1:c.6413G>A | NP_001356294.1:p.Gly2138Asp |