Linked Data
ClinVar Variation Id:
202181
dbSNP Id:
rs201951824
ExAC:
7:50544323 C / T
gnomAD v2:
7-50544323-C-T
gnomAD v3:
7-50476625-C-T
gnomAD v4:
7-50476625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50476625C>T , CM000669.2:g.50476625C>T | GRCh38 |
| NC_000007.13:g.50544323C>T , CM000669.1:g.50544323C>T | GRCh37 |
| NC_000007.12:g.50511817C>T | NCBI36 |
| NG_008742.1:g.93832G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.1040G>A (DDC) MANE Select | ENSP00000403644.2:p.Arg347Gln | |
| ENST00000357936.9:c.1040G>A (DDC) | ENSP00000350616.5:p.Arg347Gln | |
| ENST00000426377.5:c.806G>A (DDC) | ENSP00000395069.1:p.Arg269Gln | |
| ENST00000430300.5:c.682G>A (DDC) | ||
| ENST00000431062.5:c.761G>A (DDC) | ENSP00000399184.1:p.Arg254Gln | |
| ENST00000444124.6:c.1040G>A (DDC) | ENSP00000403644.2:p.Arg347Gln | |
| ENST00000444733.5:c.*141G>A (DDC) | ENSP00000393724.1:n.*141G>A | |
| ENST00000494914.1:n.196G>A (DDC) | ||
| ENST00000613602.3:c.-10-29328G>A (FIGNL1) | ENSP00000481751.1:n.-10-29328G>A | |
| ENST00000615193.4:c.761G>A (DDC) | ENSP00000484104.1:p.Arg254Gln | |
| ENST00000617822.4:c.896G>A (DDC) | ENSP00000478385.1:p.Arg299Gln | |
| ENST00000622873.4:c.926G>A (DDC) | ENSP00000479110.1:p.Arg309Gln | |
| NM_000790.3:c.1040G>A (DDC) | NP_000781.1:p.Arg347Gln | |
| NM_001082971.1:c.1040G>A (DDC) | NP_001076440.1:p.Arg347Gln | |
| NM_001242886.1:c.926G>A (DDC) | NP_001229815.1:p.Arg309Gln | |
| NM_001242887.1:c.896G>A (DDC) | NP_001229816.1:p.Arg299Gln | |
| NM_001242888.1:c.806G>A (DDC) | NP_001229817.1:p.Arg269Gln | |
| NM_001242889.1:c.761G>A (DDC) | NP_001229818.1:p.Arg254Gln | |
| XM_005271745.3:c.926G>A (DDC) | XP_005271802.1:p.Arg309Gln | |
| XM_011515161.1:c.689G>A (DDC) | XP_011513463.1:p.Arg230Gln | |
| XM_005271745.4:c.926G>A (DDC) | XP_005271802.1:p.Arg309Gln | |
| XM_011515161.2:c.983G>A (DDC) | XP_011513463.2:p.Arg328Gln | |
| NM_001082971.2:c.1040G>A (DDC) MANE Select | NP_001076440.2:p.Arg347Gln | |
| NM_000790.4:c.1040G>A (DDC) | NP_000781.2:p.Arg347Gln | |
| NM_001242888.2:c.806G>A (DDC) | NP_001229817.2:p.Arg269Gln | |
| NM_001242886.2:c.926G>A (DDC) | NP_001229815.2:p.Arg309Gln | |
| NM_001242887.2:c.896G>A (DDC) | NP_001229816.2:p.Arg299Gln | |
| NM_001242889.2:c.761G>A (DDC) | NP_001229818.2:p.Arg254Gln |