Linked Data
ClinVar Variation Id:
750237
dbSNP Id:
rs779634878
ExAC:
16:1560996 G / A
gnomAD v2:
16-1560996-G-A
gnomAD v3:
16-1510995-G-A
gnomAD v4:
16-1510995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510995G>A , CM000678.2:g.1510995G>A | GRCh38 |
| NC_000016.9:g.1560996G>A , CM000678.1:g.1560996G>A | GRCh37 |
| NC_000016.8:g.1500997G>A | NCBI36 |
| NG_032783.1:g.106114C>T | |
| NG_050910.1:g.22652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4338C>T MANE Select | ENSP00000406012.2:p.Asp1446= | |
| ENST00000361339.9:c.1920C>T | ENSP00000354895.5:p.Asp640= | |
| ENST00000397417.6:c.*2776C>T | ENSP00000380562.2:n.*2776C>T | |
| ENST00000426508.6:c.4338C>T | ENSP00000406012.2:p.Asp1446= | |
| ENST00000565298.5:n.4162C>T | ||
| NM_014714.3:c.4338C>T | NP_055529.2:p.Asp1446= | |
| XM_006720989.2:c.4338C>T | XP_006721052.1:p.Asp1446= | |
| XM_006720990.2:c.4338C>T | XP_006721053.1:p.Asp1446= | |
| XM_006720991.2:c.4338C>T | XP_006721054.1:p.Asp1446= | |
| XM_006720992.2:c.1971C>T | XP_006721055.1:p.Asp657= | |
| XM_011522766.1:c.4092C>T | XP_011521068.1:p.Asp1364= | |
| XM_011522767.1:c.3363C>T | XP_011521069.1:p.Asp1121= | |
| XM_006720990.3:c.4338C>T | XP_006721053.1:p.Asp1446= | |
| XM_006720991.3:c.4338C>T | XP_006721054.1:p.Asp1446= | |
| XM_006720992.3:c.1971C>T | XP_006721055.1:p.Asp657= | |
| XM_011522766.3:c.4092C>T | XP_011521068.1:p.Asp1364= | |
| XM_011522767.2:c.3363C>T | XP_011521069.1:p.Asp1121= | |
| XM_017023910.1:c.4338C>T | XP_016879399.1:p.Asp1446= | |
| XM_017023911.1:c.2523C>T | XP_016879400.1:p.Asp841= | |
| NM_014714.4:c.4338C>T MANE Select | NP_055529.2:p.Asp1446= |