Linked Data
dbSNP Id:
rs780583679
ExAC:
6:32818785 A / G
gnomAD v2:
6-32818785-A-G
gnomAD v4:
6-32851008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32851008A>G , CM000668.2:g.32851008A>G | GRCh38 |
| NC_000006.11:g.32818785A>G , CM000668.1:g.32818785A>G | GRCh37 |
| NC_000006.10:g.32926763A>G | NCBI36 |
| NG_011759.1:g.7964T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698420.1:c.*138T>C (TAP1) | ENSP00000513708.1:n.*138T>C | |
| ENST00000698421.1:c.845-491T>C (TAP1) | ENSP00000513709.1:n.845-491T>C | |
| ENST00000698422.1:c.986T>C (TAP1) | ENSP00000513710.1:p.Met329Thr | |
| ENST00000698423.1:c.986T>C (TAP1) | ENSP00000513711.1:p.Met329Thr | |
| ENST00000698424.1:c.986T>C (TAP1) | ENSP00000513712.1:p.Met329Thr | |
| ENST00000354258.5:c.986T>C (TAP1) MANE Select | ENSP00000346206.5:p.Met329Thr | |
| ENST00000643049.2:c.141+2488T>C (TAP1) | ENSP00000494148.2:n.141+2488T>C | |
| ENST00000643923.1:n.422T>C (TAP1) | ||
| ENST00000645078.1:n.581T>C (TAP1) | ||
| ENST00000354258.4:c.1166T>C (TAP1) | ENSP00000346206.4:p.Met389Thr | |
| ENST00000395330.5:c.-9-5130A>G (PSMB9) | ENSP00000378739.1:n.-9-5130A>G | |
| ENST00000414474.5:c.-9-5130A>G (PSMB9) | ENSP00000394363.1:n.-9-5130A>G | |
| NM_000593.5:c.1166T>C (TAP1) | NP_000584.2:p.Met389Thr | |
| NM_001292022.1:c.383T>C (TAP1) | NP_001278951.1:p.Met128Thr | |
| NM_001292022.2:c.383T>C (TAP1) | NP_001278951.1:p.Met128Thr | |
| NM_000593.6:c.986T>C (TAP1) MANE Select | NP_000584.3:p.Met329Thr |