Linked Data
ClinVar Variation Id:
17809
ClinVar RCV Id:
RCV000019387
dbSNP Id:
rs137853207
gnomAD v2:
7-50607624-C-T
gnomAD v3:
7-50539926-C-T
gnomAD v4:
7-50539926-C-T
PubMed:
PMID:20505134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50539926C>T , CM000669.2:g.50539926C>T | GRCh38 |
| NC_000007.13:g.50607624C>T , CM000669.1:g.50607624C>T | GRCh37 |
| NC_000007.12:g.50575118C>T | NCBI36 |
| NG_008742.1:g.30531G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.304G>A (DDC) MANE Select | ENSP00000403644.2:p.Gly102Ser | |
| ENST00000357936.9:c.304G>A (DDC) | ENSP00000350616.5:p.Gly102Ser | |
| ENST00000380984.4:c.304G>A (DDC) | ENSP00000370371.4:p.Gly102Ser | |
| ENST00000426377.5:c.201+3959G>A (DDC) | ENSP00000395069.1:n.201+3959G>A | |
| ENST00000430300.5:c.201G>A (DDC) | ||
| ENST00000431062.5:c.304G>A (DDC) | ENSP00000399184.1:p.Gly102Ser | |
| ENST00000444124.6:c.304G>A (DDC) | ENSP00000403644.2:p.Gly102Ser | |
| ENST00000444733.5:c.202-1947G>A (DDC) | ENSP00000393724.1:n.202-1947G>A | |
| ENST00000489162.1:n.103G>A (DDC) | ||
| ENST00000613602.3:c.-11+2592G>A (FIGNL1) | ENSP00000481751.1:n.-11+2592G>A | |
| ENST00000615193.4:c.304G>A (DDC) | ENSP00000484104.1:p.Gly102Ser | |
| ENST00000617822.4:c.304G>A (DDC) | ENSP00000478385.1:p.Gly102Ser | |
| ENST00000622873.4:c.202-1947G>A (DDC) | ENSP00000479110.1:n.202-1947G>A | |
| NM_000790.3:c.304G>A (DDC) | NP_000781.1:p.Gly102Ser | |
| NM_001082971.1:c.304G>A (DDC) | NP_001076440.1:p.Gly102Ser | |
| NM_001242886.1:c.202-1947G>A (DDC) | NP_001229815.1:n.202-1947G>A | |
| NM_001242887.1:c.304G>A (DDC) | NP_001229816.1:p.Gly102Ser | |
| NM_001242888.1:c.201+3959G>A (DDC) | NP_001229817.1:n.201+3959G>A | |
| NM_001242889.1:c.304G>A (DDC) | NP_001229818.1:p.Gly102Ser | |
| NM_001242890.1:c.304G>A (DDC) | NP_001229819.1:p.Gly102Ser | |
| NR_033845.1:n.274C>T (DDC-AS1) | ||
| XM_005271745.3:c.202-1947G>A (DDC) | XP_005271802.1:n.202-1947G>A | |
| XM_005271745.4:c.202-1947G>A (DDC) | XP_005271802.1:n.202-1947G>A | |
| NM_001082971.2:c.304G>A (DDC) MANE Select | NP_001076440.2:p.Gly102Ser | |
| NM_000790.4:c.304G>A (DDC) | NP_000781.2:p.Gly102Ser | |
| NM_001242888.2:c.201+3959G>A (DDC) | NP_001229817.2:n.201+3959G>A | |
| NM_001242890.2:c.304G>A (DDC) | NP_001229819.2:p.Gly102Ser | |
| NM_001242886.2:c.202-1947G>A (DDC) | NP_001229815.2:n.202-1947G>A | |
| NM_001242887.2:c.304G>A (DDC) | NP_001229816.2:p.Gly102Ser | |
| NM_001242889.2:c.304G>A (DDC) | NP_001229818.2:p.Gly102Ser |