Linked Data
ClinVar Variation Id:
2732210
ClinVar RCV Id:
RCV003573390
MyVariant Identifiers:
chr16:g.1412215G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362214G>A , CM000678.2:g.1362214G>A | GRCh38 |
| NC_000016.9:g.1412215G>A , CM000678.1:g.1412215G>A | GRCh37 |
| NC_000016.8:g.1352216G>A | NCBI36 |
| NG_016985.1:g.15316G>A | |
| NG_033129.1:g.57491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.519G>A | ||
| ENST00000529110.2:c.504G>A | ENSP00000435349.2:p.Leu168= | |
| ENST00000529957.6:n.478G>A | ||
| ENST00000683366.1:c.*152G>A | ENSP00000507283.1:n.*152G>A | |
| ENST00000683887.1:c.468G>A | ENSP00000506886.1:p.Leu156= | |
| ENST00000684100.1:n.414G>A | ||
| ENST00000684126.1:n.478G>A | ||
| ENST00000684688.1:n.1045G>A | ||
| ENST00000204679.9:c.420G>A MANE Select | ENSP00000204679.4:p.Leu140= | |
| ENST00000204679.8:c.420G>A | ENSP00000204679.4:p.Leu140= | |
| ENST00000527076.1:n.1436G>A | ||
| ENST00000527168.5:n.456G>A | ||
| ENST00000529110.1:c.487G>A | ||
| ENST00000529957.5:n.519G>A | ||
| NM_032520.4:c.420G>A | NP_115909.1:p.Leu140= | |
| XM_017023782.1:c.468G>A | XP_016879271.1:p.Leu156= | |
| XM_017023783.1:c.60G>A | XP_016879272.1:p.Leu20= | |
| NM_032520.5:c.420G>A MANE Select | NP_115909.1:p.Leu140= |