Linked Data
ClinVar Variation Id:
2186348
dbSNP Id:
rs142220504
ExAC:
16:2035969 C / T
gnomAD v2:
16-2035969-C-T
gnomAD v3:
16-1985968-C-T
gnomAD v4:
16-1985968-C-T
COSMIC:
COSM261081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985968C>T , CM000678.2:g.1985968C>T | GRCh38 |
| NC_000016.9:g.2035969C>T , CM000678.1:g.2035969C>T | GRCh37 |
| NC_000016.8:g.1975970C>T | NCBI36 |
| NG_016288.1:g.6820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.333C>T | ENSP00000455885.1:p.Phe111= | |
| ENST00000248114.7:c.558C>T MANE Select | ENSP00000248114.6:p.Phe186= | |
| ENST00000248114.6:c.558C>T | ENSP00000248114.6:p.Phe186= | |
| ENST00000565658.1:n.715C>T | ||
| ENST00000567719.1:c.333C>T | ENSP00000455885.1:p.Phe111= | |
| ENST00000569451.1:c.*31C>T | ENSP00000456432.1:n.*31C>T | |
| NM_005262.2:c.558C>T | NP_005253.3:p.Phe186= | |
| NM_005262.3:c.558C>T MANE Select | NP_005253.3:p.Phe186= |