Linked Data
dbSNP Id:
rs10864693
gnomAD v2:
1-231804093-G-T
gnomAD v3:
1-231668347-G-T
gnomAD v4:
1-231668347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231668347G>T , CM000663.2:g.231668347G>T | GRCh38 |
| NC_000001.10:g.231804093G>T , CM000663.1:g.231804093G>T | GRCh37 |
| NC_000001.9:g.229870716G>T | NCBI36 |
| NG_011681.1:g.46533G>T | |
| NG_011681.2:g.46533G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366637.8:c.68-25479G>T (DISC1) | ENSP00000355597.6:n.68-25479G>T | |
| ENST00000439617.8:c.68-25479G>T (DISC1) MANE Select | ENSP00000403888.4:n.68-25479G>T | |
| ENST00000644515.1:c.*214-25479G>T (TSNAX-DISC1) | ENSP00000496433.1:n.*214-25479G>T | |
| ENST00000646525.1:c.*214-25479G>T (TSNAX-DISC1) | ENSP00000494923.1:n.*214-25479G>T | |
| ENST00000647072.1:c.*321-25479G>T (TSNAX-DISC1) | ENSP00000493799.1:n.*321-25479G>T | |
| ENST00000295051.11:c.68-25479G>T (DISC1) | ENSP00000295051.7:n.68-25479G>T | |
| ENST00000317586.8:c.68-25479G>T (DISC1) | ENSP00000320784.4:n.68-25479G>T | |
| ENST00000366632.6:c.68-25479G>T (DISC1) | ENSP00000355592.2:n.68-25479G>T | |
| ENST00000366633.7:c.68-25479G>T (DISC1) | ENSP00000355593.3:n.68-25479G>T | |
| ENST00000366636.8:c.68-25479G>T (DISC1) | ENSP00000355596.4:n.68-25479G>T | |
| ENST00000366637.7:c.68-25479G>T (DISC1) | ENSP00000355597.5:n.68-25479G>T | |
| ENST00000422590.6:c.68-25483G>T (DISC1) | ENSP00000415147.2:n.68-25483G>T | |
| ENST00000439617.6:c.68-25479G>T (DISC1) | ENSP00000403888.2:n.68-25479G>T | |
| ENST00000468399.2:n.185-25479G>T (DISC1) | ||
| ENST00000535944.5:c.68-25479G>T (DISC1) | ENSP00000441193.1:n.68-25479G>T | |
| ENST00000535983.5:c.68-25479G>T (DISC1) | ENSP00000443996.1:n.68-25479G>T | |
| ENST00000537876.5:c.68-25479G>T (DISC1) | ENSP00000440909.2:n.68-25479G>T | |
| ENST00000539444.5:c.68-25479G>T (DISC1) | ENSP00000440953.1:n.68-25479G>T | |
| ENST00000602281.5:c.68-25479G>T (DISC1) | ENSP00000473425.1:n.68-25479G>T | |
| ENST00000602567.1:c.*198-25479G>T (TSNAX-DISC1) | ENSP00000473456.1:n.*198-25479G>T | |
| ENST00000602634.5:c.*214-25479G>T (TSNAX-DISC1) | ENSP00000473307.1:n.*214-25479G>T | |
| ENST00000602700.5:c.68-25479G>T (DISC1) | ENSP00000473417.1:n.68-25479G>T | |
| ENST00000602713.5:c.68-25479G>T (DISC1) | ENSP00000473261.1:n.68-25479G>T | |
| ENST00000602822.5:c.68-25479G>T (DISC1) | ENSP00000473586.1:n.68-25479G>T | |
| ENST00000602873.5:c.67+41413G>T (DISC1) | ENSP00000473386.1:n.67+41413G>T | |
| ENST00000602885.5:c.*127-25479G>T (TSNAX-DISC1) | ENSP00000473476.1:n.*127-25479G>T | |
| ENST00000602956.5:c.496-25479G>T (TSNAX-DISC1) | ENSP00000473532.1:n.496-25479G>T | |
| ENST00000602962.5:c.*198-25479G>T (TSNAX-DISC1) | ENSP00000473367.1:n.*198-25479G>T | |
| ENST00000620189.3:c.68-25479G>T (DISC1) | ENSP00000482174.1:n.68-25479G>T | |
| ENST00000622252.4:c.68-25479G>T (DISC1) | ENSP00000481791.1:n.68-25479G>T | |
| ENST00000628350.2:c.68-25479G>T (DISC1) | ENSP00000487190.1:n.68-25479G>T | |
| NM_001012957.1:c.68-25479G>T (DISC1) | NP_001012975.1:n.68-25479G>T | |
| NM_001012958.1:c.68-25479G>T (DISC1) | NP_001012976.1:n.68-25479G>T | |
| NM_001012959.1:c.68-25479G>T (DISC1) | NP_001012977.1:n.68-25479G>T | |
| NM_001164537.1:c.68-25479G>T (DISC1) | NP_001158009.1:n.68-25479G>T | |
| NM_001164538.1:c.68-25479G>T (DISC1) | NP_001158010.1:n.68-25479G>T | |
| NM_001164539.1:c.68-25479G>T (DISC1) | NP_001158011.1:n.68-25479G>T | |
| NM_001164540.1:c.68-25479G>T (DISC1) | NP_001158012.1:n.68-25479G>T | |
| NM_001164541.1:c.68-25479G>T (DISC1) | NP_001158013.1:n.68-25479G>T | |
| NM_001164542.1:c.68-25479G>T (DISC1) | NP_001158014.1:n.68-25479G>T | |
| NM_001164544.1:c.68-25479G>T (DISC1) | NP_001158016.1:n.68-25479G>T | |
| NM_001164545.1:c.68-25479G>T (DISC1) | NP_001158017.1:n.68-25479G>T | |
| NM_001164546.1:c.68-25479G>T (DISC1) | NP_001158018.1:n.68-25479G>T | |
| NM_001164547.1:c.68-25479G>T (DISC1) | NP_001158019.1:n.68-25479G>T | |
| NM_001164548.1:c.68-25479G>T (DISC1) | NP_001158020.1:n.68-25479G>T | |
| NM_001164549.1:c.68-25479G>T (DISC1) | NP_001158021.1:n.68-25479G>T | |
| NM_001164550.1:c.68-25479G>T (DISC1) | NP_001158022.1:n.68-25479G>T | |
| NM_001164551.1:c.68-25479G>T (DISC1) | NP_001158023.1:n.68-25479G>T | |
| NM_001164552.1:c.68-25479G>T (DISC1) | NP_001158024.1:n.68-25479G>T | |
| NM_001164553.1:c.68-25479G>T (DISC1) | NP_001158025.1:n.68-25479G>T | |
| NM_001164554.1:c.68-25479G>T (DISC1) | NP_001158026.1:n.68-25479G>T | |
| NM_001164555.1:c.68-25479G>T (DISC1) | NP_001158027.1:n.68-25479G>T | |
| NM_001164556.1:c.67+41413G>T (DISC1) | NP_001158028.1:n.67+41413G>T | |
| NM_018662.2:c.68-25479G>T (DISC1) | NP_061132.2:n.68-25479G>T | |
| NR_028393.1:n.789-25479G>T (TSNAX-DISC1) | ||
| NR_028394.1:n.917-25479G>T (TSNAX-DISC1) | ||
| NR_028395.1:n.917-25479G>T (TSNAX-DISC1) | ||
| NR_028396.1:n.789-25479G>T (TSNAX-DISC1) | ||
| NR_028397.1:n.654-25479G>T (TSNAX-DISC1) | ||
| NR_028398.1:n.408-25479G>T (TSNAX-DISC1) | ||
| NR_028399.1:n.1024-25479G>T (TSNAX-DISC1) | ||
| NR_028400.1:n.896-25479G>T (TSNAX-DISC1) | ||
| NM_001012957.2:c.68-25479G>T (DISC1) | NP_001012975.1:n.68-25479G>T | |
| NM_001012958.2:c.68-25479G>T (DISC1) | NP_001012976.1:n.68-25479G>T | |
| NM_001012959.2:c.68-25479G>T (DISC1) | NP_001012977.1:n.68-25479G>T | |
| NM_001164537.2:c.68-25479G>T (DISC1) | NP_001158009.1:n.68-25479G>T | |
| NM_001164538.2:c.68-25479G>T (DISC1) | NP_001158010.1:n.68-25479G>T | |
| NM_001164539.2:c.68-25479G>T (DISC1) | NP_001158011.1:n.68-25479G>T | |
| NM_001164540.2:c.68-25479G>T (DISC1) | NP_001158012.1:n.68-25479G>T | |
| NM_001164541.2:c.68-25479G>T (DISC1) | NP_001158013.1:n.68-25479G>T | |
| NM_001164542.2:c.68-25479G>T (DISC1) | NP_001158014.1:n.68-25479G>T | |
| NM_001164546.2:c.68-25479G>T (DISC1) | NP_001158018.1:n.68-25479G>T | |
| NM_001164547.2:c.68-25479G>T (DISC1) | NP_001158019.1:n.68-25479G>T | |
| NM_001164549.2:c.68-25479G>T (DISC1) | NP_001158021.1:n.68-25479G>T | |
| NM_001164550.2:c.68-25479G>T (DISC1) | NP_001158022.1:n.68-25479G>T | |
| NM_001164551.2:c.68-25479G>T (DISC1) | NP_001158023.1:n.68-25479G>T | |
| NM_001164552.2:c.68-25479G>T (DISC1) | NP_001158024.1:n.68-25479G>T | |
| NM_001164553.2:c.68-25479G>T (DISC1) | NP_001158025.1:n.68-25479G>T | |
| NM_001164554.2:c.68-25479G>T (DISC1) | NP_001158026.1:n.68-25479G>T | |
| NM_018662.3:c.68-25479G>T (DISC1) MANE Select | NP_061132.2:n.68-25479G>T | |
| NM_001164544.2:c.68-25479G>T (DISC1) | NP_001158016.1:n.68-25479G>T | |
| NM_001164545.2:c.68-25479G>T (DISC1) | NP_001158017.1:n.68-25479G>T | |
| NM_001164548.2:c.68-25479G>T (DISC1) | NP_001158020.1:n.68-25479G>T | |
| NM_001164555.2:c.68-25479G>T (DISC1) | NP_001158027.1:n.68-25479G>T | |
| NM_001164556.2:c.67+41413G>T (DISC1) | NP_001158028.1:n.67+41413G>T |