ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000289 (AMR)
Genomes Max Group AF
0.00004767 (NFE)
Exomes Max Group AF
0.00035093 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50537929G>A , CM000669.2:g.50537929G>A | GRCh38 |
| NC_000007.13:g.50605627G>A , CM000669.1:g.50605627G>A | GRCh37 |
| NC_000007.12:g.50573121G>A | NCBI36 |
| NG_008742.1:g.32528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.366C>T (DDC) MANE Select | ENSP00000403644.2:p.Leu122= | |
| ENST00000357936.9:c.366C>T (DDC) | ENSP00000350616.5:p.Leu122= | |
| ENST00000380984.4:c.366C>T (DDC) | ENSP00000370371.4:p.Leu122= | |
| ENST00000426377.5:c.201+5956C>T (DDC) | ENSP00000395069.1:n.201+5956C>T | |
| ENST00000430300.5:c.212+1986C>T (DDC) | ||
| ENST00000431062.5:c.366C>T (DDC) | ENSP00000399184.1:p.Leu122= | |
| ENST00000444124.6:c.366C>T (DDC) | ENSP00000403644.2:p.Leu122= | |
| ENST00000444733.5:c.252C>T (DDC) | ENSP00000393724.1:p.Leu84= | |
| ENST00000489162.1:n.165C>T (DDC) | ||
| ENST00000613602.3:c.-11+4589C>T (FIGNL1) | ENSP00000481751.1:n.-11+4589C>T | |
| ENST00000615193.4:c.366C>T (DDC) | ENSP00000484104.1:p.Leu122= | |
| ENST00000617822.4:c.366C>T (DDC) | ENSP00000478385.1:p.Leu122= | |
| ENST00000622873.4:c.252C>T (DDC) | ENSP00000479110.1:p.Leu84= | |
| NM_000790.3:c.366C>T (DDC) | NP_000781.1:p.Leu122= | |
| NM_001082971.1:c.366C>T (DDC) | NP_001076440.1:p.Leu122= | |
| NM_001242886.1:c.252C>T (DDC) | NP_001229815.1:p.Leu84= | |
| NM_001242887.1:c.366C>T (DDC) | NP_001229816.1:p.Leu122= | |
| NM_001242888.1:c.201+5956C>T (DDC) | NP_001229817.1:n.201+5956C>T | |
| NM_001242889.1:c.366C>T (DDC) | NP_001229818.1:p.Leu122= | |
| NM_001242890.1:c.366C>T (DDC) | NP_001229819.1:p.Leu122= | |
| NR_033845.1:n.125-1185G>A (DDC-AS1) | ||
| XM_005271745.3:c.252C>T (DDC) | XP_005271802.1:p.Leu84= | |
| XM_011515161.1:c.15C>T (DDC) | XP_011513463.1:p.Leu5= | |
| XM_005271745.4:c.252C>T (DDC) | XP_005271802.1:p.Leu84= | |
| XM_011515161.2:c.309C>T (DDC) | XP_011513463.2:p.Leu103= | |
| NM_001082971.2:c.366C>T (DDC) MANE Select | NP_001076440.2:p.Leu122= | |
| NM_000790.4:c.366C>T (DDC) | NP_000781.2:p.Leu122= | |
| NM_001242888.2:c.201+5956C>T (DDC) | NP_001229817.2:n.201+5956C>T | |
| NM_001242890.2:c.366C>T (DDC) | NP_001229819.2:p.Leu122= | |
| NM_001242886.2:c.252C>T (DDC) | NP_001229815.2:p.Leu84= | |
| NM_001242887.2:c.366C>T (DDC) | NP_001229816.2:p.Leu122= | |
| NM_001242889.2:c.366C>T (DDC) | NP_001229818.2:p.Leu122= |