Linked Data
ClinVar Variation Id:
1088189
ClinVar RCV Id:
RCV001406588
dbSNP Id:
rs755376950
ExAC:
16:1412873 C / T
gnomAD v2:
16-1412873-C-T
gnomAD v4:
16-1362872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362872C>T , CM000678.2:g.1362872C>T | GRCh38 |
| NC_000016.9:g.1412873C>T , CM000678.1:g.1412873C>T | GRCh37 |
| NC_000016.8:g.1352874C>T | NCBI36 |
| NG_016985.1:g.15974C>T | |
| NG_033129.1:g.56833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.888C>T | ||
| ENST00000529110.2:c.873C>T | ENSP00000435349.2:p.Leu291= | |
| ENST00000529957.6:n.847C>T | ||
| ENST00000683366.1:c.*521C>T | ENSP00000507283.1:n.*521C>T | |
| ENST00000683887.1:c.837C>T | ENSP00000506886.1:p.Leu279= | |
| ENST00000684100.1:n.783C>T | ||
| ENST00000684126.1:n.923C>T | ||
| ENST00000684688.1:n.1414C>T | ||
| ENST00000204679.9:c.789C>T MANE Select | ENSP00000204679.4:p.Leu263= | |
| ENST00000204679.8:c.789C>T | ENSP00000204679.4:p.Leu263= | |
| ENST00000527076.1:n.2012C>T | ||
| ENST00000527168.5:n.956C>T | ||
| ENST00000529957.5:n.888C>T | ||
| NM_032520.4:c.789C>T | NP_115909.1:p.Leu263= | |
| XM_017023782.1:c.837C>T | XP_016879271.1:p.Leu279= | |
| XM_017023783.1:c.429C>T | XP_016879272.1:p.Leu143= | |
| NM_032520.5:c.789C>T MANE Select | NP_115909.1:p.Leu263= |