Linked Data
ClinVar Variation Id:
3800
dbSNP Id:
rs104894316
ExAC:
11:89017965 G / T
gnomAD v2:
11-89017965-G-T
gnomAD v3:
11-89284797-G-T
gnomAD v4:
11-89284797-G-T
PubMed:
PMID:1642278
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284797G>T , CM000673.2:g.89284797G>T | GRCh38 |
| NC_000011.9:g.89017965G>T , CM000673.1:g.89017965G>T | GRCh37 |
| NC_000011.8:g.88657613G>T | NCBI36 |
| NG_008748.1:g.111926G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1209G>T MANE Select | ENSP00000263321.4:p.Arg403Ser | |
| ENST00000263321.5:c.1209G>T | ENSP00000263321.4:p.Arg403Ser | |
| ENST00000528243.1:n.207G>T | ||
| NM_000372.4:c.1209G>T | NP_000363.1:p.Arg403Ser | |
| XM_011542970.1:c.1209G>T | XP_011541272.1:p.Arg403Ser | |
| XM_011542970.2:c.1209G>T | XP_011541272.1:p.Arg403Ser | |
| XR_001748321.1:n.2456+1237C>A | ||
| XR_001748322.1:n.2457+1237C>A | ||
| NM_000372.5:c.1209G>T MANE Select | NP_000363.1:p.Arg403Ser |