Linked Data
ClinVar Variation Id:
765298
dbSNP Id:
rs147048228
ExAC:
16:1412060 C / T
gnomAD v2:
16-1412060-C-T
gnomAD v3:
16-1362059-C-T
gnomAD v4:
16-1362059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362059C>T , CM000678.2:g.1362059C>T | GRCh38 |
| NC_000016.9:g.1412060C>T , CM000678.1:g.1412060C>T | GRCh37 |
| NC_000016.8:g.1352061C>T | NCBI36 |
| NG_016985.1:g.15161C>T | |
| NG_033129.1:g.57646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.438C>T | ||
| ENST00000529110.2:c.423C>T | ENSP00000435349.2:p.Ile141= | |
| ENST00000529957.6:n.397C>T | ||
| ENST00000683366.1:c.*71C>T | ENSP00000507283.1:n.*71C>T | |
| ENST00000683887.1:c.387C>T | ENSP00000506886.1:p.Ile129= | |
| ENST00000684100.1:n.333C>T | ||
| ENST00000684126.1:n.397C>T | ||
| ENST00000684688.1:n.964C>T | ||
| ENST00000204679.9:c.339C>T MANE Select | ENSP00000204679.4:p.Ile113= | |
| ENST00000204679.8:c.339C>T | ENSP00000204679.4:p.Ile113= | |
| ENST00000526820.5:c.*241C>T | ENSP00000434413.1:n.*241C>T | |
| ENST00000527076.1:n.1355C>T | ||
| ENST00000527168.5:n.375C>T | ||
| ENST00000529110.1:c.406C>T | ||
| ENST00000529957.5:n.438C>T | ||
| NM_032520.4:c.339C>T | NP_115909.1:p.Ile113= | |
| XM_017023782.1:c.387C>T | XP_016879271.1:p.Ile129= | |
| XM_017023783.1:c.-22C>T | XP_016879272.1:n.-22C>T | |
| NM_032520.5:c.339C>T MANE Select | NP_115909.1:p.Ile113= |