Linked Data
ClinVar Variation Id:
1284660
dbSNP Id:
rs201812902
ExAC:
16:16248868 G / A
gnomAD v2:
16-16248868-G-A
gnomAD v3:
16-16155011-G-A
gnomAD v4:
16-16155011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155011G>A , CM000678.2:g.16155011G>A | GRCh38 |
| NC_000016.9:g.16248868G>A , CM000678.1:g.16248868G>A | GRCh37 |
| NC_000016.8:g.16156369G>A | NCBI36 |
| NG_007558.2:g.73461C>T | |
| NG_007558.3:g.73607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.766C>T | ||
| ENST00000622290.5:c.*75C>T | ENSP00000483331.2:n.*75C>T | |
| ENST00000205557.12:c.3903C>T MANE Select | ENSP00000205557.7:p.Thr1301= | |
| ENST00000640696.1:c.717C>T | ENSP00000492197.1:p.Thr239= | |
| ENST00000205557.11:c.3903C>T | ENSP00000205557.7:p.Thr1301= | |
| ENST00000456970.6:c.3528C>T | ENSP00000405002.2:n.3528C>T | |
| ENST00000576204.5:n.766C>T | ||
| ENST00000622290.4:c.*1112C>T | ENSP00000483331.1:n.*1112C>T | |
| NM_001171.5:c.3903C>T | NP_001162.4:p.Thr1301= | |
| XM_011522479.1:c.3870C>T | XP_011520781.1:p.Thr1290= | |
| XM_011522480.1:c.3561C>T | XP_011520782.1:p.Thr1187= | |
| XM_011522481.1:c.3561C>T | XP_011520783.1:p.Thr1187= | |
| XR_932836.1:n.4201C>T | ||
| XR_932837.1:n.3939C>T | ||
| XR_932838.1:n.4002C>T | ||
| XR_933134.1:n.539-4770G>A | ||
| NM_001351800.1:c.3561C>T | NP_001338729.1:p.Thr1187= | |
| NR_147784.1:n.3565C>T | ||
| XM_011522479.2:c.3870C>T | XP_011520781.1:p.Thr1290= | |
| XM_011522481.3:c.3561C>T | XP_011520783.1:p.Thr1187= | |
| XM_017023212.1:c.3735C>T | XP_016878701.1:p.Thr1245= | |
| XM_024450261.1:c.3939C>T | XP_024306029.1:p.Thr1313= | |
| XR_932836.2:n.4147C>T | ||
| XR_932837.3:n.3884C>T | ||
| XR_932838.3:n.3947C>T | ||
| NM_001171.6:c.3903C>T MANE Select | NP_001162.5:p.Thr1301= |