Linked Data
ClinVar Variation Id:
360435
ClinVar RCV Id:
RCV000319058
dbSNP Id:
rs539762148
ExAC:
7:50596911 C / G
gnomAD v2:
7-50596911-C-G
gnomAD v3:
7-50529213-C-G
gnomAD v4:
7-50529213-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50529213C>G , CM000669.2:g.50529213C>G | GRCh38 |
| NC_000007.13:g.50596911C>G , CM000669.1:g.50596911C>G | GRCh37 |
| NC_000007.12:g.50564405C>G | NCBI36 |
| NG_008742.1:g.41244G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.565G>C (DDC) MANE Select | ENSP00000403644.2:p.Asp189His | |
| ENST00000357936.9:c.565G>C (DDC) | ENSP00000350616.5:p.Asp189His | |
| ENST00000380984.4:c.565G>C (DDC) | ENSP00000370371.4:p.Asp189His | |
| ENST00000426377.5:c.331G>C (DDC) | ENSP00000395069.1:p.Asp111His | |
| ENST00000430300.5:c.213-933G>C (DDC) | ||
| ENST00000431062.5:c.435+8647G>C (DDC) | ENSP00000399184.1:n.435+8647G>C | |
| ENST00000444124.6:c.565G>C (DDC) | ENSP00000403644.2:p.Asp189His | |
| ENST00000444733.5:c.451G>C (DDC) | ENSP00000393724.1:p.Asp151His | |
| ENST00000489162.1:n.364G>C (DDC) | ||
| ENST00000613602.3:c.-11+13305G>C (FIGNL1) | ENSP00000481751.1:n.-11+13305G>C | |
| ENST00000615193.4:c.435+8647G>C (DDC) | ENSP00000484104.1:n.435+8647G>C | |
| ENST00000617822.4:c.565G>C (DDC) | ENSP00000478385.1:p.Asp189His | |
| ENST00000622873.4:c.451G>C (DDC) | ENSP00000479110.1:p.Asp151His | |
| NM_000790.3:c.565G>C (DDC) | NP_000781.1:p.Asp189His | |
| NM_001082971.1:c.565G>C (DDC) | NP_001076440.1:p.Asp189His | |
| NM_001242886.1:c.451G>C (DDC) | NP_001229815.1:p.Asp151His | |
| NM_001242887.1:c.565G>C (DDC) | NP_001229816.1:p.Asp189His | |
| NM_001242888.1:c.331G>C (DDC) | NP_001229817.1:p.Asp111His | |
| NM_001242889.1:c.435+8647G>C (DDC) | NP_001229818.1:n.435+8647G>C | |
| NM_001242890.1:c.565G>C (DDC) | NP_001229819.1:p.Asp189His | |
| XM_005271745.3:c.451G>C (DDC) | XP_005271802.1:p.Asp151His | |
| XM_011515161.1:c.214G>C (DDC) | XP_011513463.1:p.Asp72His | |
| XM_005271745.4:c.451G>C (DDC) | XP_005271802.1:p.Asp151His | |
| XM_011515161.2:c.508G>C (DDC) | XP_011513463.2:p.Asp170His | |
| NM_001082971.2:c.565G>C (DDC) MANE Select | NP_001076440.2:p.Asp189His | |
| NM_000790.4:c.565G>C (DDC) | NP_000781.2:p.Asp189His | |
| NM_001242888.2:c.331G>C (DDC) | NP_001229817.2:p.Asp111His | |
| NM_001242890.2:c.565G>C (DDC) | NP_001229819.2:p.Asp189His | |
| NM_001242886.2:c.451G>C (DDC) | NP_001229815.2:p.Asp151His | |
| NM_001242887.2:c.565G>C (DDC) | NP_001229816.2:p.Asp189His | |
| NM_001242889.2:c.435+8647G>C (DDC) | NP_001229818.2:n.435+8647G>C |