Linked Data
ClinVar Variation Id:
2731572
ClinVar RCV Id:
RCV003530886
dbSNP Id:
rs761585883
ExAC:
16:1560981 G / A
gnomAD v2:
16-1560981-G-A
gnomAD v4:
16-1510980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510980G>A , CM000678.2:g.1510980G>A | GRCh38 |
| NC_000016.9:g.1560981G>A , CM000678.1:g.1560981G>A | GRCh37 |
| NC_000016.8:g.1500982G>A | NCBI36 |
| NG_032783.1:g.106129C>T | |
| NG_050910.1:g.22637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4353C>T MANE Select | ENSP00000406012.2:p.Asp1451= | |
| ENST00000361339.9:c.1935C>T | ENSP00000354895.5:p.Asp645= | |
| ENST00000397417.6:c.*2791C>T | ENSP00000380562.2:n.*2791C>T | |
| ENST00000426508.6:c.4353C>T | ENSP00000406012.2:p.Asp1451= | |
| ENST00000565298.5:n.4177C>T | ||
| NM_014714.3:c.4353C>T | NP_055529.2:p.Asp1451= | |
| XM_006720989.2:c.4353C>T | XP_006721052.1:p.Asp1451= | |
| XM_006720990.2:c.4353C>T | XP_006721053.1:p.Asp1451= | |
| XM_006720991.2:c.4353C>T | XP_006721054.1:p.Asp1451= | |
| XM_006720992.2:c.1986C>T | XP_006721055.1:p.Asp662= | |
| XM_011522766.1:c.4107C>T | XP_011521068.1:p.Asp1369= | |
| XM_011522767.1:c.3378C>T | XP_011521069.1:p.Asp1126= | |
| XM_006720990.3:c.4353C>T | XP_006721053.1:p.Asp1451= | |
| XM_006720991.3:c.4353C>T | XP_006721054.1:p.Asp1451= | |
| XM_006720992.3:c.1986C>T | XP_006721055.1:p.Asp662= | |
| XM_011522766.3:c.4107C>T | XP_011521068.1:p.Asp1369= | |
| XM_011522767.2:c.3378C>T | XP_011521069.1:p.Asp1126= | |
| XM_017023910.1:c.4353C>T | XP_016879399.1:p.Asp1451= | |
| XM_017023911.1:c.2538C>T | XP_016879400.1:p.Asp846= | |
| NM_014714.4:c.4353C>T MANE Select | NP_055529.2:p.Asp1451= |