COSMIC:
COSN15654049 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44987233 (MID)
Genomes Max Group AF
0.3996539 (NFE)
Exomes Max Group AF
0.44600131 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32848277G>A , CM000668.2:g.32848277G>A | GRCh38 |
| NC_000006.11:g.32816054G>A , CM000668.1:g.32816054G>A | GRCh37 |
| NC_000006.10:g.32924032G>A | NCBI36 |
| NG_011759.1:g.10695C>T | |
| NG_028165.1:g.1659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698420.1:c.*719-185C>T (TAP1) | ENSP00000513708.1:n.*719-185C>T | |
| ENST00000698421.1:c.*461-185C>T (TAP1) | ENSP00000513709.1:n.*461-185C>T | |
| ENST00000698422.1:c.1378-185C>T (TAP1) | ENSP00000513710.1:n.1378-185C>T | |
| ENST00000698423.1:c.1567-185C>T (TAP1) | ENSP00000513711.1:n.1567-185C>T | |
| ENST00000698424.1:c.1438-185C>T (TAP1) | ENSP00000513712.1:n.1438-185C>T | |
| ENST00000354258.5:c.1567-185C>T (TAP1) MANE Select | ENSP00000346206.5:n.1567-185C>T | |
| ENST00000643049.2:c.142-215C>T (TAP1) | ENSP00000494148.2:n.142-215C>T | |
| ENST00000643923.1:n.1003-185C>T (TAP1) | ||
| ENST00000645078.1:n.1162-185C>T (TAP1) | ||
| ENST00000354258.4:c.1747-185C>T (TAP1) | ENSP00000346206.4:n.1747-185C>T | |
| ENST00000395330.5:c.-10+4003G>A (PSMB9) | ENSP00000378739.1:n.-10+4003G>A | |
| ENST00000414474.5:c.-10+3407G>A (PSMB9) | ENSP00000394363.1:n.-10+3407G>A | |
| ENST00000486332.1:n.1492-185C>T (TAP1) | ||
| NM_000593.5:c.1747-185C>T (TAP1) | NP_000584.2:n.1747-185C>T | |
| NM_001292022.1:c.964-185C>T (TAP1) | NP_001278951.1:n.964-185C>T | |
| NM_001292022.2:c.964-185C>T (TAP1) | NP_001278951.1:n.964-185C>T | |
| NM_000593.6:c.1567-185C>T (TAP1) MANE Select | NP_000584.3:n.1567-185C>T |