Linked Data
ClinVar Variation Id:
4644
ClinVar RCV Id:
RCV000004907
dbSNP Id:
rs121908167
gnomAD v2:
1-110607301-G-C
gnomAD v4:
1-110064679-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110064679G>C , CM000663.2:g.110064679G>C | GRCh38 |
| NC_000001.10:g.110607301G>C , CM000663.1:g.110607301G>C | GRCh37 |
| NC_000001.9:g.110408824G>C | NCBI36 |
| NG_012039.1:g.11022C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647563.2:c.502C>G (ALX3) MANE Select | ENSP00000497310.1:p.Leu168Val | |
| ENST00000649954.1:c.73C>G (ALX3) | ENSP00000497035.1:p.Leu25Val | |
| ENST00000369792.4:c.502C>G (ALX3) | ENSP00000358807.3:p.Leu168Val | |
| ENST00000473429.5:n.4214-7776G>C (STRIP1) | ||
| NM_006492.2:c.502C>G (ALX3) | NP_006483.2:p.Leu168Val | |
| NM_006492.3:c.502C>G (ALX3) MANE Select | NP_006483.2:p.Leu168Val |