Linked Data
ClinVar Variation Id:
2009864
ClinVar RCV Id:
RCV002850904
dbSNP Id:
rs151266058
ExAC:
5:126755842 C / A
gnomAD v2:
5-126755842-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127420150C>A , CM000667.2:g.127420150C>A | GRCh38 |
| NC_000005.9:g.126755842C>A , CM000667.1:g.126755842C>A | GRCh37 |
| NC_000005.8:g.126783741C>A | NCBI36 |
| NG_032072.1:g.134387C>A | |
| NG_032072.2:g.134387C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.1533C>A MANE Select | ENSP00000423354.2:p.Asp511Glu | |
| ENST00000274473.6:c.1533C>A | ENSP00000274473.6:p.Asp511Glu | |
| ENST00000418761.6:c.1533C>A | ENSP00000416284.2:p.Asp511Glu | |
| ENST00000503335.6:c.1533C>A | ENSP00000423354.2:p.Asp511Glu | |
| ENST00000508365.5:c.1533C>A | ENSP00000423195.1:p.Asp511Glu | |
| NM_001256545.1:c.1533C>A | NP_001243474.1:p.Asp511Glu | |
| NM_001308119.1:c.1533C>A | NP_001295048.1:p.Asp511Glu | |
| NM_001308121.1:c.1533C>A | NP_001295050.1:p.Asp511Glu | |
| NM_032446.2:c.1533C>A | NP_115822.1:p.Asp511Glu | |
| XM_011543692.1:c.1533C>A | XP_011541994.1:p.Asp511Glu | |
| XM_011543693.1:c.1533C>A | XP_011541995.1:p.Asp511Glu | |
| XM_011543694.1:c.1533C>A | XP_011541996.1:p.Asp511Glu | |
| XM_017009987.1:c.1698C>A | XP_016865476.1:p.Asp566Glu | |
| XM_017009988.1:c.393C>A | XP_016865477.1:p.Asp131Glu | |
| NM_001256545.2:c.1533C>A MANE Select | NP_001243474.1:p.Asp511Glu | |
| NM_032446.3:c.1533C>A | NP_115822.1:p.Asp511Glu | |
| NM_001308119.2:c.1533C>A | NP_001295048.1:p.Asp511Glu | |
| NM_001308121.2:c.1533C>A | NP_001295050.1:p.Asp511Glu |