Linked Data
ClinVar Variation Id:
160193
dbSNP Id:
rs28593634
ExAC:
16:89998930 C / T
gnomAD v2:
16-89998930-C-T
gnomAD v3:
16-89932522-C-T
gnomAD v4:
16-89932522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89932522C>T , CM000678.2:g.89932522C>T | GRCh38 |
| NC_000016.9:g.89998930C>T , CM000678.1:g.89998930C>T | GRCh37 |
| NC_000016.8:g.88526431C>T | NCBI36 |
| NG_027810.1:g.15514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.58-49C>T MANE Select | ENSP00000320295.7:n.58-49C>T | |
| ENST00000680647.1:n.2258C>T | ||
| ENST00000680788.1:n.3430C>T | ||
| ENST00000315491.11:c.58-49C>T | ENSP00000320295.7:n.58-49C>T | |
| ENST00000553656.5:c.*41-49C>T | ENSP00000452001.1:n.*41-49C>T | |
| ENST00000553967.1:c.58-49C>T | ENSP00000450765.1:n.58-49C>T | |
| ENST00000554336.5:c.58-49C>T | ENSP00000450822.1:n.58-49C>T | |
| ENST00000554444.5:c.-159-49C>T | ENSP00000451617.1:n.-159-49C>T | |
| ENST00000554927.1:n.115-49C>T | ||
| ENST00000555576.5:c.58-49C>T | ENSP00000452554.1:n.58-49C>T | |
| ENST00000555609.5:c.58-49C>T | ENSP00000451276.1:n.58-49C>T | |
| ENST00000555810.5:c.-159-49C>T | ENSP00000450538.1:n.-159-49C>T | |
| ENST00000556536.5:c.58-49C>T | ENSP00000451378.1:n.58-49C>T | |
| ENST00000556565.5:c.-159-49C>T | ENSP00000452166.1:n.-159-49C>T | |
| ENST00000556922.1:c.1099-49C>T | ENSP00000451560.1:n.1099-49C>T | |
| ENST00000557262.5:c.*41-49C>T | ENSP00000451985.1:n.*41-49C>T | |
| ENST00000557490.5:c.58-49C>T | ENSP00000451465.1:n.58-49C>T | |
| ENST00000625617.2:c.58-49C>T | ENSP00000485859.1:n.58-49C>T | |
| NM_001197181.1:c.-159-49C>T | NP_001184110.1:n.-159-49C>T | |
| NM_006086.3:c.58-49C>T | NP_006077.2:n.58-49C>T | |
| NM_006086.4:c.58-49C>T MANE Select | NP_006077.2:n.58-49C>T | |
| NM_001197181.2:c.-159-49C>T | NP_001184110.1:n.-159-49C>T |