gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4359746 (AFR)
Genomes Max Group AF
0.4359746 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232013187T>C , CM000663.2:g.232013187T>C | GRCh38 |
| NC_000001.10:g.232148933T>C , CM000663.1:g.232148933T>C | GRCh37 |
| NC_000001.9:g.230215556T>C | NCBI36 |
| NG_011681.1:g.391373T>C | |
| NG_011681.2:g.391373T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.2241+4204T>C (DISC1) | ENSP00000355597.6:n.2241+4204T>C | |
| ENST00000439617.8:c.2307+4138T>C (DISC1) MANE Select | ENSP00000403888.4:n.2307+4138T>C | |
| ENST00000366637.7:c.2241+4204T>C (DISC1) | ENSP00000355597.5:n.2241+4204T>C | |
| ENST00000439617.6:c.2307+4138T>C (DISC1) | ENSP00000403888.2:n.2307+4138T>C | |
| ENST00000620189.3:c.1941+4138T>C (DISC1) | ENSP00000482174.1:n.1941+4138T>C | |
| ENST00000622252.4:c.*848+4138T>C (DISC1) | ENSP00000481791.1:n.*848+4138T>C | |
| NM_001012957.1:c.2241+4204T>C (DISC1) | NP_001012975.1:n.2241+4204T>C | |
| NM_001164537.1:c.2403+4138T>C (DISC1) | NP_001158009.1:n.2403+4138T>C | |
| NM_001164540.1:c.1941+4138T>C (DISC1) | NP_001158012.1:n.1941+4138T>C | |
| NM_018662.2:c.2307+4138T>C (DISC1) | NP_061132.2:n.2307+4138T>C | |
| NR_028393.1:n.2973+4138T>C (TSNAX-DISC1) | ||
| NM_001012957.2:c.2241+4204T>C (DISC1) | NP_001012975.1:n.2241+4204T>C | |
| NM_001164537.2:c.2403+4138T>C (DISC1) | NP_001158009.1:n.2403+4138T>C | |
| NM_001164540.2:c.1941+4138T>C (DISC1) | NP_001158012.1:n.1941+4138T>C | |
| NM_018662.3:c.2307+4138T>C (DISC1) MANE Select | NP_061132.2:n.2307+4138T>C |