Linked Data
ClinVar Variation Id:
13731
dbSNP Id:
rs121917702
ExAC:
6:32814909 C / T
gnomAD v2:
6-32814909-C-T
gnomAD v3:
6-32847132-C-T
gnomAD v4:
6-32847132-C-T
PubMed:
PMID:8640228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32847132C>T , CM000668.2:g.32847132C>T | GRCh38 |
| NC_000006.11:g.32814909C>T , CM000668.1:g.32814909C>T | GRCh37 |
| NC_000006.10:g.32922887C>T | NCBI36 |
| NG_011759.1:g.11840G>A | |
| NG_028165.1:g.2804G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698420.1:c.*1128G>A (TAP1) | ENSP00000513708.1:n.*1128G>A | |
| ENST00000698421.1:c.*870G>A (TAP1) | ENSP00000513709.1:n.*870G>A | |
| ENST00000698422.1:c.1787G>A (TAP1) | ENSP00000513710.1:p.Arg596Gln | |
| ENST00000698423.1:c.1976G>A (TAP1) | ENSP00000513711.1:p.Arg659Gln | |
| ENST00000698424.1:c.1847G>A (TAP1) | ENSP00000513712.1:p.Arg616Gln | |
| ENST00000354258.5:c.1976G>A (TAP1) MANE Select | ENSP00000346206.5:p.Arg659Gln | |
| ENST00000643049.2:c.521G>A (TAP1) | ENSP00000494148.2:p.Arg174Gln | |
| ENST00000643923.1:n.1412G>A (TAP1) | ||
| ENST00000645078.1:n.1571G>A (TAP1) | ||
| ENST00000354258.4:c.2156G>A (TAP1) | ENSP00000346206.4:p.Arg719Gln | |
| ENST00000395330.5:c.-10+2858C>T (PSMB9) | ENSP00000378739.1:n.-10+2858C>T | |
| ENST00000414474.5:c.-10+2262C>T (PSMB9) | ENSP00000394363.1:n.-10+2262C>T | |
| ENST00000486332.1:n.1901G>A (TAP1) | ||
| ENST00000487296.1:n.856G>A (TAP1) | ||
| NM_000593.5:c.2156G>A (TAP1) | NP_000584.2:p.Arg719Gln | |
| NM_001292022.1:c.1373G>A (TAP1) | NP_001278951.1:p.Arg458Gln | |
| NM_001292022.2:c.1373G>A (TAP1) | NP_001278951.1:p.Arg458Gln | |
| NM_000593.6:c.1976G>A (TAP1) MANE Select | NP_000584.3:p.Arg659Gln |