Linked Data
dbSNP Id:
rs761296662
ExAC:
6:32818683 G / A
gnomAD v2:
6-32818683-G-A
gnomAD v3:
6-32850906-G-A
gnomAD v4:
6-32850906-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32850906G>A , CM000668.2:g.32850906G>A | GRCh38 |
| NC_000006.11:g.32818683G>A , CM000668.1:g.32818683G>A | GRCh37 |
| NC_000006.10:g.32926661G>A | NCBI36 |
| NG_011759.1:g.8066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698420.1:c.*202+38C>T (TAP1) | ENSP00000513708.1:n.*202+38C>T | |
| ENST00000698421.1:c.845-389C>T (TAP1) | ENSP00000513709.1:n.845-389C>T | |
| ENST00000698422.1:c.1050+38C>T (TAP1) | ENSP00000513710.1:n.1050+38C>T | |
| ENST00000698423.1:c.1050+38C>T (TAP1) | ENSP00000513711.1:n.1050+38C>T | |
| ENST00000698424.1:c.1050+38C>T (TAP1) | ENSP00000513712.1:n.1050+38C>T | |
| ENST00000354258.5:c.1050+38C>T (TAP1) MANE Select | ENSP00000346206.5:n.1050+38C>T | |
| ENST00000643049.2:c.141+2590C>T (TAP1) | ENSP00000494148.2:n.141+2590C>T | |
| ENST00000643923.1:n.486+38C>T (TAP1) | ||
| ENST00000645078.1:n.645+38C>T (TAP1) | ||
| ENST00000354258.4:c.1230+38C>T (TAP1) | ENSP00000346206.4:n.1230+38C>T | |
| ENST00000395330.5:c.-9-5232G>A (PSMB9) | ENSP00000378739.1:n.-9-5232G>A | |
| ENST00000414474.5:c.-9-5232G>A (PSMB9) | ENSP00000394363.1:n.-9-5232G>A | |
| NM_000593.5:c.1230+38C>T (TAP1) | NP_000584.2:n.1230+38C>T | |
| NM_001292022.1:c.447+38C>T (TAP1) | NP_001278951.1:n.447+38C>T | |
| NM_001292022.2:c.447+38C>T (TAP1) | NP_001278951.1:n.447+38C>T | |
| NM_000593.6:c.1050+38C>T (TAP1) MANE Select | NP_000584.3:n.1050+38C>T |