Linked Data
ClinVar Variation Id:
1046938
ClinVar RCV Id:
RCV001351564
dbSNP Id:
rs1255273555
gnomAD v4:
16-4799694-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799694C>A , CM000678.2:g.4799694C>A | GRCh38 |
| NC_000016.9:g.4849695C>A , CM000678.1:g.4849695C>A | GRCh37 |
| NC_000016.8:g.4789696C>A | NCBI36 |
| NG_032174.1:g.8257G>T , LRG_455:g.8257G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.424G>T MANE Select | ENSP00000322832.6:p.Val142Phe | |
| ENST00000322048.11:c.424G>T | ENSP00000322832.5:p.Val142Phe | |
| ENST00000585653.1:n.556G>T | ||
| ENST00000586153.1:c.169G>T | ENSP00000464699.1:p.Val57Phe | |
| ENST00000586336.5:n.523G>T | ||
| ENST00000586504.5:c.204G>T | ||
| ENST00000587377.5:c.423+1G>T | ENSP00000468343.1:n.423+1G>T | |
| ENST00000587711.5:c.118-1027G>T | ENSP00000467459.1:n.118-1027G>T | |
| ENST00000587843.5:c.*162G>T | ENSP00000465970.1:n.*162G>T | |
| ENST00000588201.5:c.*281G>T | ENSP00000466529.1:n.*281G>T | |
| ENST00000589543.5:n.381G>T | ||
| ENST00000591292.5:n.1753G>T | ||
| ENST00000591392.5:c.352G>T | ENSP00000467509.1:p.Val118Phe | |
| ENST00000592019.1:c.76+67G>T | ||
| NM_024589.2:c.424G>T , LRG_455t1:c.424G>T | NP_078865.1:p.Val142Phe | |
| NR_046480.1:n.748G>T | ||
| XM_006720947.2:c.424G>T | XP_006721010.1:p.Val142Phe | |
| XM_006720948.2:c.154G>T | XP_006721011.1:p.Val52Phe | |
| XM_006720947.4:c.424G>T | XP_006721010.1:p.Val142Phe | |
| XM_006720948.4:c.154G>T | XP_006721011.1:p.Val52Phe | |
| NM_024589.3:c.424G>T MANE Select | NP_078865.1:p.Val142Phe | |
| NR_046480.2:n.431G>T |