Linked Data
ClinVar Variation Id:
41012
ClinVar RCV Id:
RCV000033909
dbSNP Id:
rs281860266
ExAC:
16:88876201 C / A
gnomAD v2:
16-88876201-C-A
gnomAD v3:
16-88809793-C-A
gnomAD v4:
16-88809793-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809793C>A , CM000678.2:g.88809793C>A | GRCh38 |
| NC_000016.9:g.88876201C>A , CM000678.1:g.88876201C>A | GRCh37 |
| NC_000016.8:g.87403702C>A | NCBI36 |
| NG_008013.1:g.7142G>T | |
| NG_028266.1:g.11016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.448G>T MANE Select | ENSP00000367615.3:p.Val150Phe | |
| ENST00000378364.7:c.448G>T | ENSP00000367615.3:p.Val150Phe | |
| ENST00000426324.6:c.401-87G>T | ENSP00000397007.2:n.401-87G>T | |
| ENST00000562464.1:n.458G>T | ||
| ENST00000563655.5:c.367G>T | ENSP00000456012.1:p.Val123Phe | |
| ENST00000567057.5:n.200-87G>T | ||
| ENST00000567391.5:c.*122G>T | ENSP00000457964.1:n.*122G>T | |
| ENST00000567713.5:c.322-258G>T | ENSP00000455749.1:n.322-258G>T | |
| ENST00000568319.5:c.*75-87G>T | ENSP00000456905.1:n.*75-87G>T | |
| ENST00000568575.1:n.377G>T | ||
| ENST00000569616.1:c.513G>T | ||
| NM_000485.2:c.448G>T | NP_000476.1:p.Val150Phe | |
| NM_001030018.1:c.401-87G>T | NP_001025189.1:n.401-87G>T | |
| NM_000485.3:c.448G>T MANE Select | NP_000476.1:p.Val150Phe | |
| NM_001030018.2:c.401-87G>T | NP_001025189.1:n.401-87G>T |