Linked Data
ClinVar Variation Id:
911183
ClinVar RCV Id:
RCV001163515
dbSNP Id:
rs375309190
ExAC:
7:50534977 G / A
gnomAD v2:
7-50534977-G-A
gnomAD v3:
7-50467279-G-A
gnomAD v4:
7-50467279-G-A
COSMIC:
COSM3412144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50467279G>A , CM000669.2:g.50467279G>A | GRCh38 |
| NC_000007.13:g.50534977G>A , CM000669.1:g.50534977G>A | GRCh37 |
| NC_000007.12:g.50502471G>A | NCBI36 |
| NG_008742.1:g.103178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.1177C>T (DDC) MANE Select | ENSP00000403644.2:p.Arg393Cys | |
| ENST00000357936.9:c.1177C>T (DDC) | ENSP00000350616.5:p.Arg393Cys | |
| ENST00000426377.5:c.943C>T (DDC) | ENSP00000395069.1:p.Arg315Cys | |
| ENST00000430300.5:c.819C>T (DDC) | ||
| ENST00000431062.5:c.898C>T (DDC) | ENSP00000399184.1:p.Arg300Cys | |
| ENST00000444124.6:c.1177C>T (DDC) | ENSP00000403644.2:p.Arg393Cys | |
| ENST00000444733.5:c.*278C>T (DDC) | ENSP00000393724.1:n.*278C>T | |
| ENST00000494914.1:n.333C>T (DDC) | ||
| ENST00000613602.3:c.-10-19982C>T (FIGNL1) | ENSP00000481751.1:n.-10-19982C>T | |
| ENST00000615193.4:c.898C>T (DDC) | ENSP00000484104.1:p.Arg300Cys | |
| ENST00000617822.4:c.1033C>T (DDC) | ENSP00000478385.1:p.Arg345Cys | |
| ENST00000622873.4:c.1063C>T (DDC) | ENSP00000479110.1:p.Arg355Cys | |
| NM_000790.3:c.1177C>T (DDC) | NP_000781.1:p.Arg393Cys | |
| NM_001082971.1:c.1177C>T (DDC) | NP_001076440.1:p.Arg393Cys | |
| NM_001242886.1:c.1063C>T (DDC) | NP_001229815.1:p.Arg355Cys | |
| NM_001242887.1:c.1033C>T (DDC) | NP_001229816.1:p.Arg345Cys | |
| NM_001242888.1:c.943C>T (DDC) | NP_001229817.1:p.Arg315Cys | |
| NM_001242889.1:c.898C>T (DDC) | NP_001229818.1:p.Arg300Cys | |
| XM_005271745.3:c.1063C>T (DDC) | XP_005271802.1:p.Arg355Cys | |
| XM_011515161.1:c.826C>T (DDC) | XP_011513463.1:p.Arg276Cys | |
| XM_005271745.4:c.1063C>T (DDC) | XP_005271802.1:p.Arg355Cys | |
| XM_011515161.2:c.1120C>T (DDC) | XP_011513463.2:p.Arg374Cys | |
| NM_001082971.2:c.1177C>T (DDC) MANE Select | NP_001076440.2:p.Arg393Cys | |
| NM_000790.4:c.1177C>T (DDC) | NP_000781.2:p.Arg393Cys | |
| NM_001242888.2:c.943C>T (DDC) | NP_001229817.2:p.Arg315Cys | |
| NM_001242886.2:c.1063C>T (DDC) | NP_001229815.2:p.Arg355Cys | |
| NM_001242887.2:c.1033C>T (DDC) | NP_001229816.2:p.Arg345Cys | |
| NM_001242889.2:c.898C>T (DDC) | NP_001229818.2:p.Arg300Cys |