Linked Data
ClinVar Variation Id:
998939
ClinVar RCV Id:
RCV001294866
dbSNP Id:
rs764561596
ExAC:
12:5021185 C / T
gnomAD v2:
12-5021185-C-T
gnomAD v3:
12-4912019-C-T
gnomAD v4:
12-4912019-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912019C>T , CM000674.2:g.4912019C>T | GRCh38 |
| NC_000012.11:g.5021185C>T , CM000674.1:g.5021185C>T | GRCh37 |
| NC_000012.10:g.4891446C>T | NCBI36 |
| NG_011815.1:g.7113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.641C>T MANE Select | ENSP00000371985.3:p.Ser214Phe | |
| ENST00000543874.3:n.105+1547C>T | ||
| ENST00000639306.1:c.479C>T | ENSP00000492506.1:p.Ser160Phe | |
| ENST00000382545.3:c.641C>T | ENSP00000371985.3:p.Ser214Phe | |
| ENST00000541095.1:n.105+1547C>T | ||
| ENST00000543874.2:n.96+1547C>T | ||
| NM_000217.2:c.641C>T | NP_000208.2:p.Ser214Phe | |
| NM_000217.3:c.641C>T MANE Select | NP_000208.2:p.Ser214Phe |