Linked Data
dbSNP Id:
rs980989
gnomAD v2:
1-232176195-G-T
gnomAD v3:
1-232040449-G-T
gnomAD v4:
1-232040449-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232040449G>T , CM000663.2:g.232040449G>T | GRCh38 |
| NC_000001.10:g.232176195G>T , CM000663.1:g.232176195G>T | GRCh37 |
| NC_000001.9:g.230242818G>T | NCBI36 |
| NG_011681.1:g.418635G>T | |
| NG_011681.2:g.418635G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366637.8:c.*3618G>T (DISC1) | ENSP00000355597.6:n.*3618G>T | |
| ENST00000439617.8:c.*3618G>T (DISC1) MANE Select | ENSP00000403888.4:n.*3618G>T | |
| ENST00000366637.7:c.*3618G>T (DISC1) | ENSP00000355597.5:n.*3618G>T | |
| ENST00000439617.6:c.*3618G>T (DISC1) | ENSP00000403888.2:n.*3618G>T | |
| ENST00000620189.3:c.*3618G>T (DISC1) | ENSP00000482174.1:n.*3618G>T | |
| ENST00000622252.4:c.*4724G>T (DISC1) | ENSP00000481791.1:n.*4724G>T | |
| NM_001012957.1:c.*3618G>T (DISC1) | NP_001012975.1:n.*3618G>T | |
| NM_001164537.1:c.*3618G>T (DISC1) | NP_001158009.1:n.*3618G>T | |
| NM_001164540.1:c.*3618G>T (DISC1) | NP_001158012.1:n.*3618G>T | |
| NM_018662.2:c.*3618G>T (DISC1) | NP_061132.2:n.*3618G>T | |
| NR_028393.1:n.6849G>T (TSNAX-DISC1) | ||
| NM_001012957.2:c.*3618G>T (DISC1) | NP_001012975.1:n.*3618G>T | |
| NM_001164537.2:c.*3618G>T (DISC1) | NP_001158009.1:n.*3618G>T | |
| NM_001164540.2:c.*3618G>T (DISC1) | NP_001158012.1:n.*3618G>T | |
| NM_018662.3:c.*3618G>T (DISC1) MANE Select | NP_061132.2:n.*3618G>T |