Linked Data
dbSNP Id:
rs3737597
gnomAD v2:
1-232172838-G-A
gnomAD v3:
1-232037092-G-A
gnomAD v4:
1-232037092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232037092G>A , CM000663.2:g.232037092G>A | GRCh38 |
| NC_000001.10:g.232172838G>A , CM000663.1:g.232172838G>A | GRCh37 |
| NC_000001.9:g.230239461G>A | NCBI36 |
| NG_011681.1:g.415278G>A | |
| NG_011681.2:g.415278G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366637.8:c.*261G>A (DISC1) | ENSP00000355597.6:n.*261G>A | |
| ENST00000439617.8:c.*261G>A (DISC1) MANE Select | ENSP00000403888.4:n.*261G>A | |
| ENST00000366637.7:c.*261G>A (DISC1) | ENSP00000355597.5:n.*261G>A | |
| ENST00000439617.6:c.*261G>A (DISC1) | ENSP00000403888.2:n.*261G>A | |
| ENST00000620189.3:c.*261G>A (DISC1) | ENSP00000482174.1:n.*261G>A | |
| ENST00000622252.4:c.*1367G>A (DISC1) | ENSP00000481791.1:n.*1367G>A | |
| NM_001012957.1:c.*261G>A (DISC1) | NP_001012975.1:n.*261G>A | |
| NM_001164537.1:c.*261G>A (DISC1) | NP_001158009.1:n.*261G>A | |
| NM_001164540.1:c.*261G>A (DISC1) | NP_001158012.1:n.*261G>A | |
| NM_018662.2:c.*261G>A (DISC1) | NP_061132.2:n.*261G>A | |
| NR_028393.1:n.3492G>A (TSNAX-DISC1) | ||
| NM_001012957.2:c.*261G>A (DISC1) | NP_001012975.1:n.*261G>A | |
| NM_001164537.2:c.*261G>A (DISC1) | NP_001158009.1:n.*261G>A | |
| NM_001164540.2:c.*261G>A (DISC1) | NP_001158012.1:n.*261G>A | |
| NM_018662.3:c.*261G>A (DISC1) MANE Select | NP_061132.2:n.*261G>A |