Linked Data
ClinVar Variation Id:
360427
ClinVar RCV Id:
RCV000303475
dbSNP Id:
rs886062370
gnomAD v2:
7-50526444-A-C
gnomAD v3:
7-50458746-A-C
gnomAD v4:
7-50458746-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50458746A>C , CM000669.2:g.50458746A>C | GRCh38 |
| NC_000007.13:g.50526444A>C , CM000669.1:g.50526444A>C | GRCh37 |
| NC_000007.12:g.50493938A>C | NCBI36 |
| NG_008742.1:g.111711T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.*116T>G (DDC) MANE Select | ENSP00000403644.2:n.*116T>G | |
| ENST00000357936.9:c.*116T>G (DDC) | ENSP00000350616.5:n.*116T>G | |
| ENST00000426377.5:c.*116T>G (DDC) | ENSP00000395069.1:n.*116T>G | |
| ENST00000430300.5:c.1201T>G (DDC) | ||
| ENST00000431062.5:c.*116T>G (DDC) | ENSP00000399184.1:n.*116T>G | |
| ENST00000444124.6:c.*116T>G (DDC) | ENSP00000403644.2:n.*116T>G | |
| ENST00000444733.5:c.*660T>G (DDC) | ENSP00000393724.1:n.*660T>G | |
| ENST00000494914.1:n.715T>G (DDC) | ||
| ENST00000495320.1:n.143T>G (DDC) | ||
| ENST00000613602.3:c.-10-11449T>G (FIGNL1) | ENSP00000481751.1:n.-10-11449T>G | |
| ENST00000615193.4:c.*116T>G (DDC) | ENSP00000484104.1:n.*116T>G | |
| ENST00000617822.4:c.*116T>G (DDC) | ENSP00000478385.1:n.*116T>G | |
| ENST00000622873.4:c.*116T>G (DDC) | ENSP00000479110.1:n.*116T>G | |
| NM_000790.3:c.*116T>G (DDC) | NP_000781.1:n.*116T>G | |
| NM_001082971.1:c.*116T>G (DDC) | NP_001076440.1:n.*116T>G | |
| NM_001242886.1:c.*116T>G (DDC) | NP_001229815.1:n.*116T>G | |
| NM_001242887.1:c.*116T>G (DDC) | NP_001229816.1:n.*116T>G | |
| NM_001242888.1:c.*116T>G (DDC) | NP_001229817.1:n.*116T>G | |
| NM_001242889.1:c.*116T>G (DDC) | NP_001229818.1:n.*116T>G | |
| XM_005271745.3:c.*116T>G (DDC) | XP_005271802.1:n.*116T>G | |
| XM_011515161.1:c.*116T>G (DDC) | XP_011513463.1:n.*116T>G | |
| XM_005271745.4:c.*116T>G (DDC) | XP_005271802.1:n.*116T>G | |
| XM_011515161.2:c.*116T>G (DDC) | XP_011513463.2:n.*116T>G | |
| NM_001082971.2:c.*116T>G (DDC) MANE Select | NP_001076440.2:n.*116T>G | |
| NM_000790.4:c.*116T>G (DDC) | NP_000781.2:n.*116T>G | |
| NM_001242888.2:c.*116T>G (DDC) | NP_001229817.2:n.*116T>G | |
| NM_001242886.2:c.*116T>G (DDC) | NP_001229815.2:n.*116T>G | |
| NM_001242887.2:c.*116T>G (DDC) | NP_001229816.2:n.*116T>G | |
| NM_001242889.2:c.*116T>G (DDC) | NP_001229818.2:n.*116T>G |