dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38120373 (AFR)
Genomes Max Group AF
0.38120373 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231972068C>T , CM000663.2:g.231972068C>T | GRCh38 |
| NC_000001.10:g.232107814C>T , CM000663.1:g.232107814C>T | GRCh37 |
| NC_000001.9:g.230174437C>T | NCBI36 |
| NG_011681.1:g.350254C>T | |
| NG_011681.2:g.350254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.2042+13180C>T (DISC1) | ENSP00000355597.6:n.2042+13180C>T | |
| ENST00000439617.8:c.2042+13180C>T (DISC1) MANE Select | ENSP00000403888.4:n.2042+13180C>T | |
| ENST00000366637.7:c.2042+13180C>T (DISC1) | ENSP00000355597.5:n.2042+13180C>T | |
| ENST00000422590.6:c.*1903+13180C>T (DISC1) | ENSP00000415147.2:n.*1903+13180C>T | |
| ENST00000427560.1:n.307+13180C>T (DISC1) | ||
| ENST00000439617.6:c.2042+13180C>T (DISC1) | ENSP00000403888.2:n.2042+13180C>T | |
| ENST00000535983.5:c.1982-36717C>T (DISC1) | ENSP00000443996.1:n.1982-36717C>T | |
| ENST00000620189.3:c.1676+13180C>T (DISC1) | ENSP00000482174.1:n.1676+13180C>T | |
| ENST00000622252.4:c.*583+13180C>T (DISC1) | ENSP00000481791.1:n.*583+13180C>T | |
| NM_001012957.1:c.2042+13180C>T (DISC1) | NP_001012975.1:n.2042+13180C>T | |
| NM_001164537.1:c.2138+13180C>T (DISC1) | NP_001158009.1:n.2138+13180C>T | |
| NM_001164538.1:c.2042+13180C>T (DISC1) | NP_001158010.1:n.2042+13180C>T | |
| NM_001164540.1:c.1676+13180C>T (DISC1) | NP_001158012.1:n.1676+13180C>T | |
| NM_001164541.1:c.1982-36717C>T (DISC1) | NP_001158013.1:n.1982-36717C>T | |
| NM_001164547.1:c.*15+13180C>T (DISC1) | NP_001158019.1:n.*15+13180C>T | |
| NM_018662.2:c.2042+13180C>T (DISC1) | NP_061132.2:n.2042+13180C>T | |
| NR_028393.1:n.2708+13180C>T (TSNAX-DISC1) | ||
| NM_001012957.2:c.2042+13180C>T (DISC1) | NP_001012975.1:n.2042+13180C>T | |
| NM_001164537.2:c.2138+13180C>T (DISC1) | NP_001158009.1:n.2138+13180C>T | |
| NM_001164538.2:c.2042+13180C>T (DISC1) | NP_001158010.1:n.2042+13180C>T | |
| NM_001164540.2:c.1676+13180C>T (DISC1) | NP_001158012.1:n.1676+13180C>T | |
| NM_001164541.2:c.1982-36717C>T (DISC1) | NP_001158013.1:n.1982-36717C>T | |
| NM_001164547.2:c.*15+13180C>T (DISC1) | NP_001158019.1:n.*15+13180C>T | |
| NM_018662.3:c.2042+13180C>T (DISC1) MANE Select | NP_061132.2:n.2042+13180C>T |