Linked Data
ClinVar Variation Id:
4643
ClinVar RCV Id:
RCV000004906
dbSNP Id:
rs121908166
PubMed:
PMID:19409524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110061550T>C , CM000663.2:g.110061550T>C | GRCh38 |
| NC_000001.10:g.110604172T>C , CM000663.1:g.110604172T>C | GRCh37 |
| NC_000001.9:g.110405695T>C | NCBI36 |
| NG_012039.1:g.14151A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647563.2:c.608A>G (ALX3) MANE Select | ENSP00000497310.1:p.Asn203Ser | |
| ENST00000649954.1:c.179A>G (ALX3) | ENSP00000497035.1:p.Asn60Ser | |
| ENST00000369792.4:c.608A>G (ALX3) | ENSP00000358807.3:p.Asn203Ser | |
| ENST00000473429.5:n.4213+6748T>C (STRIP1) | ||
| NM_006492.2:c.608A>G (ALX3) | NP_006483.2:p.Asn203Ser | |
| NM_006492.3:c.608A>G (ALX3) MANE Select | NP_006483.2:p.Asn203Ser |