Linked Data
ClinVar Variation Id:
1563140
ClinVar RCV Id:
RCV002216318
dbSNP Id:
rs2141909392
MyVariant Identifiers:
chr16:g.4849759C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799758C>T , CM000678.2:g.4799758C>T | GRCh38 |
| NC_000016.9:g.4849759C>T , CM000678.1:g.4849759C>T | GRCh37 |
| NC_000016.8:g.4789760C>T | NCBI36 |
| NG_032174.1:g.8193G>A , LRG_455:g.8193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.360G>A MANE Select | ENSP00000322832.6:p.Val120= | |
| ENST00000322048.11:c.360G>A | ENSP00000322832.5:p.Val120= | |
| ENST00000585653.1:n.492G>A | ||
| ENST00000586153.1:c.105G>A | ENSP00000464699.1:p.Val35= | |
| ENST00000586336.5:n.459G>A | ||
| ENST00000586504.5:c.140G>A | ||
| ENST00000587377.5:c.360G>A | ENSP00000468343.1:p.Val120= | |
| ENST00000587711.5:c.118-1091G>A | ENSP00000467459.1:n.118-1091G>A | |
| ENST00000587843.5:c.*98G>A | ENSP00000465970.1:n.*98G>A | |
| ENST00000588201.5:c.*217G>A | ENSP00000466529.1:n.*217G>A | |
| ENST00000589543.5:n.317G>A | ||
| ENST00000591292.5:n.1689G>A | ||
| ENST00000591392.5:c.288G>A | ENSP00000467509.1:p.Val96= | |
| ENST00000592019.1:c.76+3G>A | ||
| NM_024589.2:c.360G>A , LRG_455t1:c.360G>A | NP_078865.1:p.Val120= | |
| NR_046480.1:n.684G>A | ||
| XM_006720947.2:c.360G>A | XP_006721010.1:p.Val120= | |
| XM_006720948.2:c.90G>A | XP_006721011.1:p.Val30= | |
| XM_006720947.4:c.360G>A | XP_006721010.1:p.Val120= | |
| XM_006720948.4:c.90G>A | XP_006721011.1:p.Val30= | |
| NM_024589.3:c.360G>A MANE Select | NP_078865.1:p.Val120= | |
| NR_046480.2:n.367G>A |