Linked Data
ClinVar Variation Id:
773025
ClinVar RCV Id:
RCV000952705
dbSNP Id:
rs28382852
ExAC:
12:57911246 G / C
gnomAD v2:
12-57911246-G-C
gnomAD v3:
12-57517463-G-C
gnomAD v4:
12-57517463-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57517463G>C , CM000674.2:g.57517463G>C | GRCh38 |
| NC_000012.11:g.57911246G>C , CM000674.1:g.57911246G>C | GRCh37 |
| NC_000012.10:g.56197513G>C | NCBI36 |
| NG_027674.1:g.8055C>G | |
| NG_034077.1:g.34511G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346473.8:c.-32-25C>G (DDIT3) MANE Select | ENSP00000340671.3:n.-32-25C>G | |
| ENST00000623876.2:c.-32-25C>G (DDIT3) | ENSP00000494844.1:n.-32-25C>G | |
| ENST00000346473.7:c.-32-25C>G (DDIT3) | ENSP00000340671.3:n.-32-25C>G | |
| ENST00000537638.6:c.*1159G>C (MARS1) | ENSP00000446168.2:n.*1159G>C | |
| ENST00000547303.5:c.-18-39C>G (DDIT3) | ENSP00000447188.1:n.-18-39C>G | |
| ENST00000547526.1:c.13C>G (DDIT3) | ENSP00000447503.1:p.Pro5Ala | |
| ENST00000551116.5:c.13C>G (DDIT3) | ENSP00000448665.1:p.Pro5Ala | |
| ENST00000552740.5:c.13C>G (DDIT3) | ENSP00000447803.1:p.Pro5Ala | |
| ENST00000618206.4:c.-32-25C>G (DDIT3) | ENSP00000481270.1:n.-32-25C>G | |
| ENST00000623876.1:n.281C>G (DDIT3) | ||
| NM_001195053.1:c.13C>G (DDIT3) | NP_001181982.1:p.Pro5Ala | |
| NM_001195054.1:c.13C>G (DDIT3) | NP_001181983.1:p.Pro5Ala | |
| NM_001195055.1:c.13C>G (DDIT3) | NP_001181984.1:p.Pro5Ala | |
| NM_001195056.1:c.13C>G (DDIT3) | NP_001181985.1:p.Pro5Ala | |
| NM_001195057.1:c.-18-39C>G (DDIT3) | NP_001181986.1:n.-18-39C>G | |
| NM_004083.5:c.-32-25C>G (DDIT3) | NP_004074.2:n.-32-25C>G | |
| XM_011538006.1:c.86-25C>G (DDIT3) | XP_011536308.1:n.86-25C>G | |
| NM_004083.6:c.-32-25C>G (DDIT3) MANE Select | NP_004074.2:n.-32-25C>G |