Linked Data
dbSNP Id:
rs565701007
ExAC:
6:32815030 C / T
gnomAD v2:
6-32815030-C-T
gnomAD v3:
6-32847253-C-T
gnomAD v4:
6-32847253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32847253C>T , CM000668.2:g.32847253C>T | GRCh38 |
| NC_000006.11:g.32815030C>T , CM000668.1:g.32815030C>T | GRCh37 |
| NC_000006.10:g.32923008C>T | NCBI36 |
| NG_011759.1:g.11719G>A | |
| NG_028165.1:g.2683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698420.1:c.*1056-49G>A (TAP1) | ENSP00000513708.1:n.*1056-49G>A | |
| ENST00000698421.1:c.*798-49G>A (TAP1) | ENSP00000513709.1:n.*798-49G>A | |
| ENST00000698422.1:c.1715-49G>A (TAP1) | ENSP00000513710.1:n.1715-49G>A | |
| ENST00000698423.1:c.1904-49G>A (TAP1) | ENSP00000513711.1:n.1904-49G>A | |
| ENST00000698424.1:c.1775-49G>A (TAP1) | ENSP00000513712.1:n.1775-49G>A | |
| ENST00000354258.5:c.1904-49G>A (TAP1) MANE Select | ENSP00000346206.5:n.1904-49G>A | |
| ENST00000643049.2:c.449-49G>A (TAP1) | ENSP00000494148.2:n.449-49G>A | |
| ENST00000643923.1:n.1340-49G>A (TAP1) | ||
| ENST00000645078.1:n.1499-49G>A (TAP1) | ||
| ENST00000354258.4:c.2084-49G>A (TAP1) | ENSP00000346206.4:n.2084-49G>A | |
| ENST00000395330.5:c.-10+2979C>T (PSMB9) | ENSP00000378739.1:n.-10+2979C>T | |
| ENST00000414474.5:c.-10+2383C>T (PSMB9) | ENSP00000394363.1:n.-10+2383C>T | |
| ENST00000486332.1:n.1829-49G>A (TAP1) | ||
| ENST00000487296.1:n.735G>A (TAP1) | ||
| NM_000593.5:c.2084-49G>A (TAP1) | NP_000584.2:n.2084-49G>A | |
| NM_001292022.1:c.1301-49G>A (TAP1) | NP_001278951.1:n.1301-49G>A | |
| NM_001292022.2:c.1301-49G>A (TAP1) | NP_001278951.1:n.1301-49G>A | |
| NM_000593.6:c.1904-49G>A (TAP1) MANE Select | NP_000584.3:n.1904-49G>A |