Linked Data
ClinVar Variation Id:
291682
dbSNP Id:
rs79954820
ExAC:
1:10689903 T / G
gnomAD v2:
1-10689903-T-G
gnomAD v3:
1-10629846-T-G
gnomAD v4:
1-10629846-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10629846T>G , CM000663.2:g.10629846T>G | GRCh38 |
| NC_000001.10:g.10689903T>G , CM000663.1:g.10689903T>G | GRCh37 |
| NC_000001.9:g.10612490T>G | NCBI36 |
| NG_008340.1:g.159901T>G | |
| NG_008340.2:g.159901T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.993T>G MANE Select | ENSP00000349016.4:p.Asp331Glu | |
| ENST00000356607.8:c.993T>G | ENSP00000349016.4:p.Asp331Glu | |
| NM_004565.2:c.993T>G | NP_004556.1:p.Asp331Glu | |
| XM_005263470.3:c.801T>G | XP_005263527.1:p.Asp267Glu | |
| XM_011541577.1:c.1035T>G | XP_011539879.1:p.Asp345Glu | |
| XM_011541578.1:c.936T>G | XP_011539880.1:p.Asp312Glu | |
| XM_011541579.1:c.906T>G | XP_011539881.1:p.Asp302Glu | |
| XM_011541580.1:c.864T>G | XP_011539882.1:p.Asp288Glu | |
| XM_005263470.5:c.801T>G | XP_005263527.1:p.Asp267Glu | |
| XM_011541577.2:c.1035T>G | XP_011539879.1:p.Asp345Glu | |
| XM_011541578.2:c.936T>G | XP_011539880.1:p.Asp312Glu | |
| XM_011541579.3:c.906T>G | XP_011539881.1:p.Asp302Glu | |
| XM_024447651.1:c.801T>G | XP_024303419.1:p.Asp267Glu | |
| NM_004565.3:c.993T>G MANE Select | NP_004556.1:p.Asp331Glu |