Linked Data
ClinVar Variation Id:
1694644
ClinVar RCV Id:
RCV002262364
dbSNP Id:
rs2135242705
gnomAD v4:
11-89178689-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178689A>T , CM000673.2:g.89178689A>T | GRCh38 |
| NC_000011.9:g.88911857A>T , CM000673.1:g.88911857A>T | GRCh37 |
| NC_000011.8:g.88551505A>T | NCBI36 |
| NG_008748.1:g.5818A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.736A>T MANE Select | ENSP00000263321.4:p.Ile246Phe | |
| ENST00000263321.5:c.736A>T | ENSP00000263321.4:p.Ile246Phe | |
| ENST00000526139.1:n.797A>T | ||
| NM_000372.4:c.736A>T | NP_000363.1:p.Ile246Phe | |
| XM_011542970.1:c.736A>T | XP_011541272.1:p.Ile246Phe | |
| XM_011542970.2:c.736A>T | XP_011541272.1:p.Ile246Phe | |
| XR_001748321.1:n.2718-65156T>A | ||
| XR_001748322.1:n.2733-65156T>A | ||
| NM_000372.5:c.736A>T MANE Select | NP_000363.1:p.Ile246Phe |