Linked Data
ClinVar Variation Id:
2689223
ClinVar RCV Id:
RCV003487909
dbSNP Id:
rs187367875
ExAC:
4:175414438 C / T
gnomAD v2:
4-175414438-C-T
gnomAD v4:
4-174493287-C-T
COSMIC:
COSM6167010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174493287C>T , CM000666.2:g.174493287C>T | GRCh38 |
| NC_000004.11:g.175414438C>T , CM000666.1:g.175414438C>T | GRCh37 |
| NC_000004.10:g.175651013C>T | NCBI36 |
| NG_011689.1:g.34355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.526G>A MANE Select | ENSP00000296522.6:p.Val176Met | |
| ENST00000296521.11:c.499-1193G>A | ENSP00000296521.7:n.499-1193G>A | |
| ENST00000296522.10:c.526G>A | ENSP00000296522.6:p.Val176Met | |
| ENST00000422112.6:c.322G>A | ENSP00000398720.2:p.Val108Met | |
| ENST00000506910.5:c.163G>A | ENSP00000423066.1:p.Val55Met | |
| ENST00000508330.5:c.*155G>A | ENSP00000425741.1:n.*155G>A | |
| ENST00000509512.1:n.175G>A | ||
| ENST00000510835.5:c.*288G>A | ENSP00000427699.1:n.*288G>A | |
| ENST00000510901.5:c.163G>A | ENSP00000422418.1:p.Val55Met | |
| ENST00000511499.5:n.310G>A | ||
| ENST00000514584.5:c.163G>A | ENSP00000423110.1:p.Val55Met | |
| ENST00000541923.5:c.163G>A | ENSP00000438017.1:p.Val55Met | |
| ENST00000542498.5:c.422-1193G>A | ENSP00000443644.1:n.422-1193G>A | |
| NM_000860.5:c.526G>A | NP_000851.2:p.Val176Met | |
| NM_001145816.2:c.499-1193G>A | NP_001139288.1:n.499-1193G>A | |
| NM_001256301.1:c.163G>A | NP_001243230.1:p.Val55Met | |
| NM_001256305.1:c.422-1193G>A | NP_001243234.1:n.422-1193G>A | |
| NM_001256306.1:c.322G>A | NP_001243235.1:p.Val108Met | |
| NM_001256307.1:c.163G>A | NP_001243236.1:p.Val55Met | |
| NM_000860.6:c.526G>A MANE Select | NP_000851.2:p.Val176Met | |
| NM_001145816.3:c.499-1193G>A | NP_001139288.1:n.499-1193G>A | |
| NM_001256305.2:c.422-1193G>A | NP_001243234.1:n.422-1193G>A | |
| NM_001256306.2:c.322G>A | NP_001243235.1:p.Val108Met | |
| NM_001256307.2:c.163G>A | NP_001243236.1:p.Val55Met |