Linked Data
ClinVar Variation Id:
4648
ClinVar RCV Id:
RCV000004911
dbSNP Id:
rs121908170
ExAC:
1:110607217 G / A
gnomAD v2:
1-110607217-G-A
gnomAD v3:
1-110064595-G-A
gnomAD v4:
1-110064595-G-A
PubMed:
PMID:19409524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110064595G>A , CM000663.2:g.110064595G>A | GRCh38 |
| NC_000001.10:g.110607217G>A , CM000663.1:g.110607217G>A | GRCh37 |
| NC_000001.9:g.110408740G>A | NCBI36 |
| NG_012039.1:g.11106C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647563.2:c.586C>T (ALX3) MANE Select | ENSP00000497310.1:p.Arg196Trp | |
| ENST00000649954.1:c.157C>T (ALX3) | ENSP00000497035.1:p.Arg53Trp | |
| ENST00000369792.4:c.586C>T (ALX3) | ENSP00000358807.3:p.Arg196Trp | |
| ENST00000473429.5:n.4214-7860G>A (STRIP1) | ||
| NM_006492.2:c.586C>T (ALX3) | NP_006483.2:p.Arg196Trp | |
| NM_006492.3:c.586C>T (ALX3) MANE Select | NP_006483.2:p.Arg196Trp |