Linked Data
ClinVar Variation Id:
807978
dbSNP Id:
rs771420935
ExAC:
16:3778992 C / A
gnomAD v2:
16-3778992-C-A
gnomAD v3:
16-3728991-C-A
gnomAD v4:
16-3728991-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728991C>A , CM000678.2:g.3728991C>A | GRCh38 |
| NC_000016.9:g.3778992C>A , CM000678.1:g.3778992C>A | GRCh37 |
| NC_000016.8:g.3718993C>A | NCBI36 |
| NG_009873.1:g.156130G>T | |
| NG_009873.2:g.156723G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6056G>T MANE Select | ENSP00000262367.5:p.Gly2019Val | |
| ENST00000262367.9:c.6056G>T | ENSP00000262367.5:p.Gly2019Val | |
| ENST00000382070.7:c.5942G>T | ENSP00000371502.3:p.Gly1981Val | |
| NM_001079846.1:c.5942G>T | NP_001073315.1:p.Gly1981Val | |
| NM_004380.2:c.6056G>T | NP_004371.2:p.Gly2019Val | |
| XM_005255124.3:c.6011G>T | XP_005255181.1:p.Gly2004Val | |
| XM_005255125.3:c.5639G>T | XP_005255182.1:p.Gly1880Val | |
| XM_006720848.2:c.5795G>T | XP_006720911.1:p.Gly1932Val | |
| XM_011522380.1:c.6002G>T | XP_011520682.1:p.Gly2001Val | |
| XM_011522381.1:c.5303G>T | XP_011520683.1:p.Gly1768Val | |
| XM_005255124.4:c.6011G>T | XP_005255181.1:p.Gly2004Val | |
| XM_005255125.4:c.5639G>T | XP_005255182.1:p.Gly1880Val | |
| XM_006720848.3:c.5795G>T | XP_006720911.1:p.Gly1932Val | |
| XM_011522381.2:c.5303G>T | XP_011520683.1:p.Gly1768Val | |
| XM_017022944.1:c.6050G>T | XP_016878433.1:p.Gly2017Val | |
| NM_004380.3:c.6056G>T MANE Select | NP_004371.2:p.Gly2019Val |