Linked Data
ClinVar Variation Id:
4386
ClinVar RCV Id:
RCV000004636
dbSNP Id:
rs74315288
gnomAD v4:
1-54999209-G-T
PubMed:
PMID:11687798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999209G>T , CM000663.2:g.54999209G>T | GRCh38 |
| NC_000001.10:g.55464882G>T , CM000663.1:g.55464882G>T | GRCh37 |
| NC_000001.9:g.55237470G>T | NCBI36 |
| NG_008965.1:g.5266G>T | |
| NG_008965.2:g.5277G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.23G>T MANE Select | ENSP00000498282.1:p.Arg8Leu | |
| ENST00000371265.4:c.23G>T | ENSP00000360312.4:p.Arg8Leu | |
| NM_057176.2:c.23G>T | NP_476517.1:p.Arg8Leu | |
| NM_057176.3:c.23G>T MANE Select | NP_476517.1:p.Arg8Leu |