Linked Data
ClinVar Variation Id:
56043
dbSNP Id:
rs386833524
ExAC:
9:6592870 C / T
gnomAD v2:
9-6592870-C-T
gnomAD v3:
9-6592870-C-T
gnomAD v4:
9-6592870-C-T
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592870C>T , CM000671.2:g.6592870C>T | GRCh38 |
| NC_000009.11:g.6592870C>T , CM000671.1:g.6592870C>T | GRCh37 |
| NC_000009.10:g.6582870C>T | NCBI36 |
| NG_016397.1:g.57823G>A , LRG_643:g.57823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1382G>A MANE Select | ENSP00000370737.4:p.Arg461Gln | |
| ENST00000639364.1:n.1082G>A | ||
| ENST00000639443.1:n.950G>A | ||
| ENST00000639493.1:n.534G>A | ||
| ENST00000639954.1:n.1090G>A | ||
| ENST00000640592.1:n.1265G>A | ||
| ENST00000640703.1:n.225G>A | ||
| ENST00000321612.6:c.1382G>A | ENSP00000370737.3:p.Arg461Gln | |
| ENST00000463305.1:n.466G>A | ||
| NM_000170.2:c.1382G>A , LRG_643t1:c.1382G>A | NP_000161.2:p.Arg461Gln | |
| NM_000170.3:c.1382G>A MANE Select | NP_000161.2:p.Arg461Gln |