COSMIC:
COSN6447174 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67536384 (AFR)
Genomes Max Group AF
0.67536384 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231994862C>G , CM000663.2:g.231994862C>G | GRCh38 |
| NC_000001.10:g.232130608C>G , CM000663.1:g.232130608C>G | GRCh37 |
| NC_000001.9:g.230197231C>G | NCBI36 |
| NG_011681.1:g.373048C>G | |
| NG_011681.2:g.373048C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.2043-13923C>G (DISC1) | ENSP00000355597.6:n.2043-13923C>G | |
| ENST00000439617.8:c.2043-13923C>G (DISC1) MANE Select | ENSP00000403888.4:n.2043-13923C>G | |
| ENST00000366637.7:c.2043-13923C>G (DISC1) | ENSP00000355597.5:n.2043-13923C>G | |
| ENST00000422590.6:c.*1904-13923C>G (DISC1) | ENSP00000415147.2:n.*1904-13923C>G | |
| ENST00000427560.1:n.308-13923C>G (DISC1) | ||
| ENST00000439617.6:c.2043-13923C>G (DISC1) | ENSP00000403888.2:n.2043-13923C>G | |
| ENST00000535983.5:c.1982-13923C>G (DISC1) | ENSP00000443996.1:n.1982-13923C>G | |
| ENST00000620189.3:c.1677-13923C>G (DISC1) | ENSP00000482174.1:n.1677-13923C>G | |
| ENST00000622252.4:c.*584-13923C>G (DISC1) | ENSP00000481791.1:n.*584-13923C>G | |
| NM_001012957.1:c.2043-13923C>G (DISC1) | NP_001012975.1:n.2043-13923C>G | |
| NM_001164537.1:c.2139-13923C>G (DISC1) | NP_001158009.1:n.2139-13923C>G | |
| NM_001164538.1:c.2043-13923C>G (DISC1) | NP_001158010.1:n.2043-13923C>G | |
| NM_001164540.1:c.1677-13923C>G (DISC1) | NP_001158012.1:n.1677-13923C>G | |
| NM_001164541.1:c.1982-13923C>G (DISC1) | NP_001158013.1:n.1982-13923C>G | |
| NM_001164547.1:c.*16-13923C>G (DISC1) | NP_001158019.1:n.*16-13923C>G | |
| NM_018662.2:c.2043-13923C>G (DISC1) | NP_061132.2:n.2043-13923C>G | |
| NR_028393.1:n.2709-13923C>G (TSNAX-DISC1) | ||
| NM_001012957.2:c.2043-13923C>G (DISC1) | NP_001012975.1:n.2043-13923C>G | |
| NM_001164537.2:c.2139-13923C>G (DISC1) | NP_001158009.1:n.2139-13923C>G | |
| NM_001164538.2:c.2043-13923C>G (DISC1) | NP_001158010.1:n.2043-13923C>G | |
| NM_001164540.2:c.1677-13923C>G (DISC1) | NP_001158012.1:n.1677-13923C>G | |
| NM_001164541.2:c.1982-13923C>G (DISC1) | NP_001158013.1:n.1982-13923C>G | |
| NM_001164547.2:c.*16-13923C>G (DISC1) | NP_001158019.1:n.*16-13923C>G | |
| NM_018662.3:c.2043-13923C>G (DISC1) MANE Select | NP_061132.2:n.2043-13923C>G |