Linked Data
ClinVar Variation Id:
1569
ClinVar RCV Id:
RCV000001635
dbSNP Id:
rs118204024
gnomAD v4:
17-42536414-T-C
PubMed:
PMID:11068184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536414T>C , CM000679.2:g.42536414T>C | GRCh38 |
| NC_000017.10:g.40688432T>C , CM000679.1:g.40688432T>C | GRCh37 |
| NC_000017.9:g.37941958T>C | NCBI36 |
| NG_011552.1:g.5482T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.142T>C MANE Select | ENSP00000225927.1:p.Phe48Leu | |
| ENST00000225927.6:c.142T>C | ENSP00000225927.1:p.Phe48Leu | |
| NM_000263.3:c.142T>C | NP_000254.2:p.Phe48Leu | |
| XM_024450771.1:c.142T>C | XP_024306539.1:p.Phe48Leu | |
| NM_000263.4:c.142T>C MANE Select | NP_000254.2:p.Phe48Leu |