Linked Data
ClinVar Variation Id:
489108
dbSNP Id:
rs1002670900
gnomAD v2:
16-1569983-G-T
gnomAD v3:
16-1519982-G-T
gnomAD v4:
16-1519982-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1519982G>T , CM000678.2:g.1519982G>T | GRCh38 |
| NC_000016.9:g.1569983G>T , CM000678.1:g.1569983G>T | GRCh37 |
| NC_000016.8:g.1509984G>T | NCBI36 |
| NG_032783.1:g.97127C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.3939C>A MANE Select | ENSP00000406012.2:p.Cys1313Ter | |
| ENST00000361339.9:c.1521C>A | ENSP00000354895.5:p.Cys507Ter | |
| ENST00000397417.6:c.*2377C>A | ENSP00000380562.2:n.*2377C>A | |
| ENST00000426508.6:c.3939C>A | ENSP00000406012.2:p.Cys1313Ter | |
| ENST00000565298.5:n.3763C>A | ||
| ENST00000568837.1:c.57C>A | ENSP00000458439.1:p.Cys19Ter | |
| NM_014714.3:c.3939C>A | NP_055529.2:p.Cys1313Ter | |
| XM_006720989.2:c.3939C>A | XP_006721052.1:p.Cys1313Ter | |
| XM_006720990.2:c.3939C>A | XP_006721053.1:p.Cys1313Ter | |
| XM_006720991.2:c.3939C>A | XP_006721054.1:p.Cys1313Ter | |
| XM_006720992.2:c.1572C>A | XP_006721055.1:p.Cys524Ter | |
| XM_011522766.1:c.3693C>A | XP_011521068.1:p.Cys1231Ter | |
| XM_011522767.1:c.2964C>A | XP_011521069.1:p.Cys988Ter | |
| XM_006720990.3:c.3939C>A | XP_006721053.1:p.Cys1313Ter | |
| XM_006720991.3:c.3939C>A | XP_006721054.1:p.Cys1313Ter | |
| XM_006720992.3:c.1572C>A | XP_006721055.1:p.Cys524Ter | |
| XM_011522766.3:c.3693C>A | XP_011521068.1:p.Cys1231Ter | |
| XM_011522767.2:c.2964C>A | XP_011521069.1:p.Cys988Ter | |
| XM_017023910.1:c.3939C>A | XP_016879399.1:p.Cys1313Ter | |
| XM_017023911.1:c.2124C>A | XP_016879400.1:p.Cys708Ter | |
| NM_014714.4:c.3939C>A MANE Select | NP_055529.2:p.Cys1313Ter |