Linked Data
ClinVar Variation Id:
1878479
ClinVar RCV Id:
RCV002510532
dbSNP Id:
rs765595608
ExAC:
6:24528308 C / A
gnomAD v3:
6-24528080-C-A
gnomAD v4:
6-24528080-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528080C>A , CM000668.2:g.24528080C>A | GRCh38 |
| NC_000006.11:g.24528308C>A , CM000668.1:g.24528308C>A | GRCh37 |
| NC_000006.10:g.24636287C>A | NCBI36 |
| NG_008161.1:g.38112C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1257C>A MANE Select | ENSP00000350191.3:p.Phe419Leu | |
| ENST00000479394.2:n.372C>A | ||
| ENST00000672352.1:c.876C>A | ENSP00000500876.1:p.Phe292Leu | |
| ENST00000672652.1:c.1220C>A | ||
| ENST00000348925.2:c.1296C>A | ENSP00000314649.3:p.Phe432Leu | |
| ENST00000357578.7:c.1257C>A | ENSP00000350191.3:p.Phe419Leu | |
| ENST00000479394.1:n.372C>A | ||
| ENST00000491546.5:c.1173C>A | ENSP00000417687.1:p.Phe391Leu | |
| NM_001080.3:c.1257C>A MANE Select | NP_001071.1:p.Phe419Leu | |
| NM_170740.1:c.1296C>A | NP_733936.1:p.Phe432Leu | |
| NM_001368954.1:c.1113C>A | NP_001355883.1:p.Phe371Leu |