gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49491824 (AFR)
Genomes Max Group AF
0.49491824 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231557942G>T , CM000663.2:g.231557942G>T | GRCh38 |
| NC_000001.10:g.231693688G>T , CM000663.1:g.231693688G>T | GRCh37 |
| NC_000001.9:g.229760311G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366639.9:c.368-3186G>T (TSNAX) MANE Select | ENSP00000355599.3:n.368-3186G>T | |
| ENST00000413309.3:c.389-3186G>T (TSNAX) | ENSP00000397537.1:n.389-3186G>T | |
| ENST00000644515.1:c.367+15331G>T (TSNAX-DISC1) | ENSP00000496433.1:n.367+15331G>T | |
| ENST00000646525.1:c.367+15331G>T (TSNAX-DISC1) | ENSP00000494923.1:n.367+15331G>T | |
| ENST00000647072.1:c.367+15331G>T (TSNAX-DISC1) | ENSP00000493799.1:n.367+15331G>T | |
| ENST00000366639.8:c.368-3186G>T (TSNAX) | ENSP00000355599.3:n.368-3186G>T | |
| ENST00000413309.2:c.389-3186G>T (TSNAX) | ENSP00000397537.1:n.389-3186G>T | |
| ENST00000475168.1:n.3340-3186G>T (TSNAX) | ||
| ENST00000602567.1:c.368-3186G>T (TSNAX-DISC1) | ENSP00000473456.1:n.368-3186G>T | |
| ENST00000602634.5:c.367+15331G>T (TSNAX-DISC1) | ENSP00000473307.1:n.367+15331G>T | |
| ENST00000602885.5:c.122-3186G>T (TSNAX-DISC1) | ENSP00000473476.1:n.122-3186G>T | |
| ENST00000602956.5:c.368-3186G>T (TSNAX-DISC1) | ENSP00000473532.1:n.368-3186G>T | |
| ENST00000602962.5:c.368-3186G>T (TSNAX-DISC1) | ENSP00000473367.1:n.368-3186G>T | |
| NM_005999.2:c.368-3186G>T (TSNAX) | NP_005990.1:n.368-3186G>T | |
| NR_028393.1:n.525+15331G>T (TSNAX-DISC1) | ||
| NR_028394.1:n.526-3186G>T (TSNAX-DISC1) | ||
| NR_028395.1:n.526-3186G>T (TSNAX-DISC1) | ||
| NR_028396.1:n.525+15331G>T (TSNAX-DISC1) | ||
| NR_028397.1:n.526-3186G>T (TSNAX-DISC1) | ||
| NR_028398.1:n.280-3186G>T (TSNAX-DISC1) | ||
| NR_028399.1:n.526-3186G>T (TSNAX-DISC1) | ||
| NR_028400.1:n.525+15331G>T (TSNAX-DISC1) | ||
| NM_005999.3:c.368-3186G>T (TSNAX) MANE Select | NP_005990.1:n.368-3186G>T |