Linked Data
dbSNP Id:
rs16856202
gnomAD v2:
1-232155151-T-G
gnomAD v3:
1-232019405-T-G
gnomAD v4:
1-232019405-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232019405T>G , CM000663.2:g.232019405T>G | GRCh38 |
| NC_000001.10:g.232155151T>G , CM000663.1:g.232155151T>G | GRCh37 |
| NC_000001.9:g.230221774T>G | NCBI36 |
| NG_011681.1:g.397591T>G | |
| NG_011681.2:g.397591T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366637.8:c.2242-7030T>G (DISC1) | ENSP00000355597.6:n.2242-7030T>G | |
| ENST00000439617.8:c.2308-7030T>G (DISC1) MANE Select | ENSP00000403888.4:n.2308-7030T>G | |
| ENST00000366637.7:c.2242-7030T>G (DISC1) | ENSP00000355597.5:n.2242-7030T>G | |
| ENST00000439617.6:c.2308-7030T>G (DISC1) | ENSP00000403888.2:n.2308-7030T>G | |
| ENST00000620189.3:c.1942-7030T>G (DISC1) | ENSP00000482174.1:n.1942-7030T>G | |
| ENST00000622252.4:c.*849-7030T>G (DISC1) | ENSP00000481791.1:n.*849-7030T>G | |
| NM_001012957.1:c.2242-7030T>G (DISC1) | NP_001012975.1:n.2242-7030T>G | |
| NM_001164537.1:c.2404-7030T>G (DISC1) | NP_001158009.1:n.2404-7030T>G | |
| NM_001164540.1:c.1942-7030T>G (DISC1) | NP_001158012.1:n.1942-7030T>G | |
| NM_018662.2:c.2308-7030T>G (DISC1) | NP_061132.2:n.2308-7030T>G | |
| NR_028393.1:n.2974-7030T>G (TSNAX-DISC1) | ||
| NM_001012957.2:c.2242-7030T>G (DISC1) | NP_001012975.1:n.2242-7030T>G | |
| NM_001164537.2:c.2404-7030T>G (DISC1) | NP_001158009.1:n.2404-7030T>G | |
| NM_001164540.2:c.1942-7030T>G (DISC1) | NP_001158012.1:n.1942-7030T>G | |
| NM_018662.3:c.2308-7030T>G (DISC1) MANE Select | NP_061132.2:n.2308-7030T>G |