Linked Data
ClinVar Variation Id:
360430
dbSNP Id:
rs144293557
ExAC:
7:50534964 C / T
gnomAD v2:
7-50534964-C-T
gnomAD v3:
7-50467266-C-T
gnomAD v4:
7-50467266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50467266C>T , CM000669.2:g.50467266C>T | GRCh38 |
| NC_000007.13:g.50534964C>T , CM000669.1:g.50534964C>T | GRCh37 |
| NC_000007.12:g.50502458C>T | NCBI36 |
| NG_008742.1:g.103191G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.1190G>A (DDC) MANE Select | ENSP00000403644.2:p.Arg397His | |
| ENST00000357936.9:c.1190G>A (DDC) | ENSP00000350616.5:p.Arg397His | |
| ENST00000426377.5:c.956G>A (DDC) | ENSP00000395069.1:p.Arg319His | |
| ENST00000430300.5:c.832G>A (DDC) | ||
| ENST00000431062.5:c.911G>A (DDC) | ENSP00000399184.1:p.Arg304His | |
| ENST00000444124.6:c.1190G>A (DDC) | ENSP00000403644.2:p.Arg397His | |
| ENST00000444733.5:c.*291G>A (DDC) | ENSP00000393724.1:n.*291G>A | |
| ENST00000494914.1:n.346G>A (DDC) | ||
| ENST00000613602.3:c.-10-19969G>A (FIGNL1) | ENSP00000481751.1:n.-10-19969G>A | |
| ENST00000615193.4:c.911G>A (DDC) | ENSP00000484104.1:p.Arg304His | |
| ENST00000617822.4:c.1046G>A (DDC) | ENSP00000478385.1:p.Arg349His | |
| ENST00000622873.4:c.1076G>A (DDC) | ENSP00000479110.1:p.Arg359His | |
| NM_000790.3:c.1190G>A (DDC) | NP_000781.1:p.Arg397His | |
| NM_001082971.1:c.1190G>A (DDC) | NP_001076440.1:p.Arg397His | |
| NM_001242886.1:c.1076G>A (DDC) | NP_001229815.1:p.Arg359His | |
| NM_001242887.1:c.1046G>A (DDC) | NP_001229816.1:p.Arg349His | |
| NM_001242888.1:c.956G>A (DDC) | NP_001229817.1:p.Arg319His | |
| NM_001242889.1:c.911G>A (DDC) | NP_001229818.1:p.Arg304His | |
| XM_005271745.3:c.1076G>A (DDC) | XP_005271802.1:p.Arg359His | |
| XM_011515161.1:c.839G>A (DDC) | XP_011513463.1:p.Arg280His | |
| XM_005271745.4:c.1076G>A (DDC) | XP_005271802.1:p.Arg359His | |
| XM_011515161.2:c.1133G>A (DDC) | XP_011513463.2:p.Arg378His | |
| NM_001082971.2:c.1190G>A (DDC) MANE Select | NP_001076440.2:p.Arg397His | |
| NM_000790.4:c.1190G>A (DDC) | NP_000781.2:p.Arg397His | |
| NM_001242888.2:c.956G>A (DDC) | NP_001229817.2:p.Arg319His | |
| NM_001242886.2:c.1076G>A (DDC) | NP_001229815.2:p.Arg359His | |
| NM_001242887.2:c.1046G>A (DDC) | NP_001229816.2:p.Arg349His | |
| NM_001242889.2:c.911G>A (DDC) | NP_001229818.2:p.Arg304His |