Linked Data
dbSNP Id:
rs765577071
gnomAD v2:
11-55579446-C-A
gnomAD v4:
11-55811970-C-A
COSMIC:
COSM6069024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811970C>A , CM000673.2:g.55811970C>A | GRCh38 |
| NC_000011.9:g.55579446C>A , CM000673.1:g.55579446C>A | GRCh37 |
| NC_000011.8:g.55336022C>A | NCBI36 |
| NG_052620.1:g.5604C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.504C>A MANE Select | ENSP00000485319.1:p.Phe168Leu | |
| ENST00000333973.3:c.504C>A | ENSP00000335529.2:p.Phe168Leu | |
| ENST00000623450.1:c.504C>A | ENSP00000485509.1:p.Phe168Leu | |
| ENST00000625203.1:c.504C>A | ENSP00000485319.1:p.Phe168Leu | |
| NM_001004738.1:c.504C>A | NP_001004738.1:p.Phe168Leu | |
| NM_001004738.2:c.504C>A MANE Select | NP_001004738.1:p.Phe168Leu |