Linked Data
ClinVar Variation Id:
540992
dbSNP Id:
rs779790998
ExAC:
16:27454425 C / A
gnomAD v2:
16-27454425-C-A
gnomAD v3:
16-27443104-C-A
gnomAD v4:
16-27443104-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27443104C>A , CM000678.2:g.27443104C>A | GRCh38 |
| NC_000016.9:g.27454425C>A , CM000678.1:g.27454425C>A | GRCh37 |
| NC_000016.8:g.27361926C>A | NCBI36 |
| NG_012222.1:g.45703C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697146.1:c.*91C>A | ENSP00000513135.1:n.*91C>A | |
| ENST00000337929.8:c.495C>A MANE Select | ENSP00000338010.3:p.Asp165Glu | |
| ENST00000337929.7:c.495C>A | ENSP00000338010.3:p.Asp165Glu | |
| ENST00000395754.4:c.495C>A | ENSP00000379103.4:p.Asp165Glu | |
| ENST00000561953.1:n.435C>A | ||
| ENST00000564089.5:c.495C>A | ENSP00000456707.1:p.Asp165Glu | |
| NM_021798.3:c.495C>A | NP_068570.1:p.Asp165Glu | |
| NM_181078.2:c.495C>A | NP_851564.1:p.Asp165Glu | |
| NM_181079.4:c.561C>A | NP_851565.4:p.Asp187Glu | |
| XM_011545857.1:c.561C>A | XP_011544159.1:p.Asp187Glu | |
| XM_011545858.1:c.136-1438C>A | XP_011544160.1:n.136-1438C>A | |
| XM_011545857.3:c.561C>A | XP_011544159.1:p.Asp187Glu | |
| XM_011545858.3:c.136-1438C>A | XP_011544160.1:n.136-1438C>A | |
| XM_017023257.2:c.495C>A | XP_016878746.1:p.Asp165Glu | |
| NM_181078.3:c.495C>A MANE Select | NP_851564.1:p.Asp165Glu | |
| NM_021798.4:c.495C>A | NP_068570.1:p.Asp165Glu | |
| NM_181079.5:c.561C>A | NP_851565.4:p.Asp187Glu |