Linked Data
ClinVar Variation Id:
1363540
ClinVar RCV Id:
RCV001902319
dbSNP Id:
rs1050479247
gnomAD v3:
16-1362870-C-T
gnomAD v4:
16-1362870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362870C>T , CM000678.2:g.1362870C>T | GRCh38 |
| NC_000016.9:g.1412871C>T , CM000678.1:g.1412871C>T | GRCh37 |
| NC_000016.8:g.1352872C>T | NCBI36 |
| NG_016985.1:g.15972C>T | |
| NG_033129.1:g.56835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.886C>T | ||
| ENST00000529110.2:c.871C>T | ENSP00000435349.2:p.Leu291Phe | |
| ENST00000529957.6:n.845C>T | ||
| ENST00000683366.1:c.*519C>T | ENSP00000507283.1:n.*519C>T | |
| ENST00000683887.1:c.835C>T | ENSP00000506886.1:p.Leu279Phe | |
| ENST00000684100.1:n.781C>T | ||
| ENST00000684126.1:n.921C>T | ||
| ENST00000684688.1:n.1412C>T | ||
| ENST00000204679.9:c.787C>T MANE Select | ENSP00000204679.4:p.Leu263Phe | |
| ENST00000204679.8:c.787C>T | ENSP00000204679.4:p.Leu263Phe | |
| ENST00000527076.1:n.2010C>T | ||
| ENST00000527168.5:n.954C>T | ||
| ENST00000529957.5:n.886C>T | ||
| NM_032520.4:c.787C>T | NP_115909.1:p.Leu263Phe | |
| XM_017023782.1:c.835C>T | XP_016879271.1:p.Leu279Phe | |
| XM_017023783.1:c.427C>T | XP_016879272.1:p.Leu143Phe | |
| NM_032520.5:c.787C>T MANE Select | NP_115909.1:p.Leu263Phe |