Linked Data
ClinVar Variation Id:
210848
ClinVar RCV Id:
RCV000193753
dbSNP Id:
rs797045524
gnomAD v4:
X-70453733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70453733C>T , CM000685.2:g.70453733C>T | GRCh38 |
| NC_000023.10:g.69673583C>T , CM000685.1:g.69673583C>T | GRCh37 |
| NC_000023.9:g.69590308C>T | NCBI36 |
| NG_015849.1:g.13879C>T | |
| NG_015849.2:g.13879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374355.8:c.231C>T (DLG3) | ENSP00000363475.3:p.Ile77= | |
| ENST00000374360.8:c.1242C>T (DLG3) MANE Select | ENSP00000363480.3:p.Ile414= | |
| ENST00000194900.8:c.1296C>T (DLG3) | ENSP00000194900.4:p.Ile432= | |
| ENST00000374355.7:c.231C>T (DLG3) | ENSP00000363475.3:p.Ile77= | |
| ENST00000374360.7:c.1242C>T (DLG3) | ENSP00000363480.3:p.Ile414= | |
| ENST00000463252.5:n.1641C>T (DLG3) | ||
| NM_020730.2:c.231C>T (DLG3) | NP_065781.1:p.Ile77= | |
| NM_021120.3:c.1242C>T (DLG3) | NP_066943.2:p.Ile414= | |
| NR_046586.1:n.84-427G>A (DLG3-AS1) | ||
| NR_109801.1:n.51-427G>A (DLG3-AS1) | ||
| XM_005262248.2:c.-208C>T (DLG3) | XP_005262305.1:n.-208C>T | |
| XM_006724625.2:c.1242C>T (DLG3) | XP_006724688.1:p.Ile414= | |
| XM_006724626.2:c.1242C>T (DLG3) | XP_006724689.1:p.Ile414= | |
| XM_011530883.1:c.1242C>T (DLG3) | XP_011529185.1:p.Ile414= | |
| XM_005262248.4:c.-208C>T (DLG3) | XP_005262305.1:n.-208C>T | |
| XM_017029322.2:c.231C>T (DLG3) | XP_016884811.1:p.Ile77= | |
| XM_017029323.2:c.231C>T (DLG3) | XP_016884812.1:p.Ile77= | |
| XM_017029324.2:c.231C>T (DLG3) | XP_016884813.1:p.Ile77= | |
| NM_021120.4:c.1242C>T (DLG3) MANE Select | NP_066943.2:p.Ile414= | |
| NM_020730.3:c.231C>T (DLG3) | NP_065781.1:p.Ile77= |