Linked Data
ClinVar Variation Id:
191744
dbSNP Id:
rs201971682
gnomAD v3:
4-119186071-T-A
gnomAD v4:
4-119186071-T-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119186071T>A , CM000666.2:g.119186071T>A | GRCh38 |
| NC_000004.11:g.120107226T>A , CM000666.1:g.120107226T>A | GRCh37 |
| NC_000004.10:g.120326674T>A | NCBI36 |
| NG_029747.1:g.55288T>A , LRG_396:g.55288T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.666T>A MANE Select | ENSP00000306997.6:p.Phe222Leu | |
| ENST00000307128.5:c.666T>A | ENSP00000306997.5:p.Phe222Leu | |
| NM_016599.4:c.666T>A , LRG_396t1:c.666T>A | NP_057683.1:p.Phe222Leu | |
| NM_016599.5:c.666T>A MANE Select | NP_057683.1:p.Phe222Leu |