Linked Data
ClinVar Variation Id:
319916
dbSNP Id:
rs200253241
ExAC:
16:56928499 A / G
gnomAD v2:
16-56928499-A-G
gnomAD v3:
16-56894587-A-G
gnomAD v4:
16-56894587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894587A>G , CM000678.2:g.56894587A>G | GRCh38 |
| NC_000016.9:g.56928499A>G , CM000678.1:g.56928499A>G | GRCh37 |
| NC_000016.8:g.55486000A>G | NCBI36 |
| NG_009386.1:g.34381A>G | |
| NG_009386.2:g.34381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2578A>G MANE Select | ENSP00000456149.2:p.Lys860Glu | |
| ENST00000262502.5:c.2575A>G | ENSP00000262502.5:p.Lys859Glu | |
| ENST00000438926.6:c.2605A>G | ENSP00000402152.2:p.Lys869Glu | |
| ENST00000563236.5:c.2578A>G | ENSP00000456149.1:p.Lys860Glu | |
| ENST00000566786.5:c.2602A>G | ENSP00000457552.1:p.Lys868Glu | |
| NM_000339.2:c.2605A>G | NP_000330.2:p.Lys869Glu | |
| NM_001126107.1:c.2602A>G | NP_001119579.1:p.Lys868Glu | |
| NM_001126108.1:c.2578A>G | NP_001119580.1:p.Lys860Glu | |
| XM_005256119.1:c.2575A>G | XP_005256176.1:p.Lys859Glu | |
| XM_005256119.2:c.2575A>G | XP_005256176.1:p.Lys859Glu | |
| NM_000339.3:c.2605A>G | NP_000330.3:p.Lys869Glu | |
| NM_001126107.2:c.2602A>G | NP_001119579.2:p.Lys868Glu | |
| NM_001126108.2:c.2578A>G MANE Select | NP_001119580.2:p.Lys860Glu |