Linked Data
ClinVar Variation Id:
1245436
ClinVar RCV Id:
RCV001641759
dbSNP Id:
rs998850
gnomAD v2:
7-50607388-G-C
gnomAD v3:
7-50539690-G-C
gnomAD v4:
7-50539690-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50539690G>C , CM000669.2:g.50539690G>C | GRCh38 |
| NC_000007.13:g.50607388G>C , CM000669.1:g.50607388G>C | GRCh37 |
| NC_000007.12:g.50574882G>C | NCBI36 |
| NG_008742.1:g.30767C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.315+225C>G (DDC) MANE Select | ENSP00000403644.2:n.315+225C>G | |
| ENST00000357936.9:c.315+225C>G (DDC) | ENSP00000350616.5:n.315+225C>G | |
| ENST00000380984.4:c.315+225C>G (DDC) | ENSP00000370371.4:n.315+225C>G | |
| ENST00000426377.5:c.201+4195C>G (DDC) | ENSP00000395069.1:n.201+4195C>G | |
| ENST00000430300.5:c.212+225C>G (DDC) | ||
| ENST00000431062.5:c.315+225C>G (DDC) | ENSP00000399184.1:n.315+225C>G | |
| ENST00000444124.6:c.315+225C>G (DDC) | ENSP00000403644.2:n.315+225C>G | |
| ENST00000444733.5:c.202-1711C>G (DDC) | ENSP00000393724.1:n.202-1711C>G | |
| ENST00000489162.1:n.114+225C>G (DDC) | ||
| ENST00000613602.3:c.-11+2828C>G (FIGNL1) | ENSP00000481751.1:n.-11+2828C>G | |
| ENST00000615193.4:c.315+225C>G (DDC) | ENSP00000484104.1:n.315+225C>G | |
| ENST00000617822.4:c.315+225C>G (DDC) | ENSP00000478385.1:n.315+225C>G | |
| ENST00000622873.4:c.202-1711C>G (DDC) | ENSP00000479110.1:n.202-1711C>G | |
| NM_000790.3:c.315+225C>G (DDC) | NP_000781.1:n.315+225C>G | |
| NM_001082971.1:c.315+225C>G (DDC) | NP_001076440.1:n.315+225C>G | |
| NM_001242886.1:c.202-1711C>G (DDC) | NP_001229815.1:n.202-1711C>G | |
| NM_001242887.1:c.315+225C>G (DDC) | NP_001229816.1:n.315+225C>G | |
| NM_001242888.1:c.201+4195C>G (DDC) | NP_001229817.1:n.201+4195C>G | |
| NM_001242889.1:c.315+225C>G (DDC) | NP_001229818.1:n.315+225C>G | |
| NM_001242890.1:c.315+225C>G (DDC) | NP_001229819.1:n.315+225C>G | |
| NR_033845.1:n.179-141G>C (DDC-AS1) | ||
| XM_005271745.3:c.202-1711C>G (DDC) | XP_005271802.1:n.202-1711C>G | |
| XM_005271745.4:c.202-1711C>G (DDC) | XP_005271802.1:n.202-1711C>G | |
| NM_001082971.2:c.315+225C>G (DDC) MANE Select | NP_001076440.2:n.315+225C>G | |
| NM_000790.4:c.315+225C>G (DDC) | NP_000781.2:n.315+225C>G | |
| NM_001242888.2:c.201+4195C>G (DDC) | NP_001229817.2:n.201+4195C>G | |
| NM_001242890.2:c.315+225C>G (DDC) | NP_001229819.2:n.315+225C>G | |
| NM_001242886.2:c.202-1711C>G (DDC) | NP_001229815.2:n.202-1711C>G | |
| NM_001242887.2:c.315+225C>G (DDC) | NP_001229816.2:n.315+225C>G | |
| NM_001242889.2:c.315+225C>G (DDC) | NP_001229818.2:n.315+225C>G |