Linked Data
ClinVar Variation Id:
6989
ClinVar RCV Id:
RCV000007405
dbSNP Id:
rs104894446
gnomAD v4:
14-49622137-C-T
PubMed:
PMID:8808595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49622137C>T , CM000676.2:g.49622137C>T | GRCh38 |
| NC_000014.8:g.50088855C>T , CM000676.1:g.50088855C>T | GRCh37 |
| NC_000014.7:g.49158605C>T | NCBI36 |
| NG_008920.1:g.6367C>T | |
| NG_033054.1:g.3495G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305386.4:c.869C>T MANE Select | ENSP00000307423.2:p.Ser290Phe | |
| ENST00000305386.3:c.869C>T | ENSP00000307423.2:p.Ser290Phe | |
| NM_002408.3:c.869C>T | NP_002399.1:p.Ser290Phe | |
| NM_002408.4:c.869C>T MANE Select | NP_002399.1:p.Ser290Phe |