Linked Data
ClinVar Variation Id:
1540123
ClinVar RCV Id:
RCV002154923
dbSNP Id:
rs915089130
gnomAD v3:
4-154744818-C-T
gnomAD v4:
4-154744818-C-T
COSMIC:
COSM4497236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744818C>T , CM000666.2:g.154744818C>T | GRCh38 |
| NC_000004.11:g.155665970C>T , CM000666.1:g.155665970C>T | GRCh37 |
| NC_000004.10:g.155885420C>T | NCBI36 |
| NG_009110.1:g.5808C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.492C>T MANE Select | ENSP00000337224.3:p.Phe164= | |
| ENST00000336356.3:c.492C>T | ENSP00000337224.3:p.Phe164= | |
| ENST00000499392.1:n.472-3371C>T | ||
| ENST00000507827.5:c.492C>T | ENSP00000426761.1:p.Phe164= | |
| ENST00000510733.1:n.819C>T | ||
| NM_001301645.1:c.492C>T | NP_001288574.1:p.Phe164= | |
| NM_004744.4:c.492C>T | NP_004735.2:p.Phe164= | |
| XM_006714412.2:c.492C>T | XP_006714475.1:p.Phe164= | |
| XR_938793.1:n.828C>T | ||
| XR_938793.2:n.824C>T | ||
| NM_004744.5:c.492C>T MANE Select | NP_004735.2:p.Phe164= | |
| NM_001301645.2:c.492C>T | NP_001288574.1:p.Phe164= |