Linked Data
ClinVar Variation Id:
2901968
ClinVar RCV Id:
RCV003612118
MyVariant Identifiers:
chr16:g.5132604C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5082603C>T , CM000678.2:g.5082603C>T | GRCh38 |
| NC_000016.9:g.5132604C>T , CM000678.1:g.5132604C>T | GRCh37 |
| NC_000016.8:g.5072605C>T | NCBI36 |
| NG_009202.1:g.15795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3253C>T | ||
| ENST00000682020.1:c.523C>T | ENSP00000508075.1:p.Leu175= | |
| ENST00000682206.1:c.*212C>T | ENSP00000508285.1:n.*212C>T | |
| ENST00000682314.1:n.1165C>T | ||
| ENST00000682327.1:c.589C>T | ENSP00000507058.1:p.Leu197= | |
| ENST00000682349.1:n.3259C>T | ||
| ENST00000682703.1:n.4085C>T | ||
| ENST00000682797.1:c.*209C>T | ENSP00000507582.1:n.*209C>T | |
| ENST00000682985.1:c.628C>T | ENSP00000507598.1:p.Leu210= | |
| ENST00000683433.1:c.376C>T | ENSP00000507463.1:p.Leu126= | |
| ENST00000683685.1:n.1991C>T | ||
| ENST00000683710.1:c.*1084C>T | ENSP00000506785.1:n.*1084C>T | |
| ENST00000683739.1:c.784C>T | ENSP00000507002.1:p.Leu262= | |
| ENST00000683772.1:n.1161C>T | ||
| ENST00000684008.1:c.1055C>T | ENSP00000507962.1:n.1055C>T | |
| ENST00000684190.1:c.1078C>T | ENSP00000507554.1:p.Leu360= | |
| ENST00000684335.1:c.1006C>T | ENSP00000508112.1:p.Leu336= | |
| ENST00000262374.10:c.1117C>T MANE Select | ENSP00000262374.5:p.Leu373= | |
| ENST00000650085.1:n.1941C>T | ||
| ENST00000262374.9:c.1117C>T | ENSP00000262374.4:p.Leu373= | |
| ENST00000544428.1:c.784C>T | ENSP00000440019.1:p.Leu262= | |
| ENST00000588623.5:c.784C>T | ENSP00000468118.1:p.Leu262= | |
| ENST00000591822.5:c.*1018C>T | ENSP00000467865.1:n.*1018C>T | |
| NM_019109.4:c.1117C>T | NP_061982.3:p.Leu373= | |
| XM_011522565.1:c.784C>T | XP_011520867.1:p.Leu262= | |
| NM_001330504.1:c.784C>T | NP_001317433.1:p.Leu262= | |
| XM_017023457.2:c.1078C>T | XP_016878946.1:p.Leu360= | |
| XM_017023458.1:c.784C>T | XP_016878947.1:p.Leu262= | |
| XR_932882.3:n.1146C>T | ||
| NM_019109.5:c.1117C>T MANE Select | NP_061982.3:p.Leu373= | |
| NM_001330504.2:c.784C>T | NP_001317433.1:p.Leu262= |