Linked Data
ClinVar Variation Id:
13730
dbSNP Id:
rs1135216
ExAC:
6:32814975 T / C
gnomAD v2:
6-32814975-T-C
gnomAD v3:
6-32847198-T-C
gnomAD v4:
6-32847198-T-C
PubMed:
PMID:1570316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32847198T>C , CM000668.2:g.32847198T>C | GRCh38 |
| NC_000006.11:g.32814975T>C , CM000668.1:g.32814975T>C | GRCh37 |
| NC_000006.10:g.32922953T>C | NCBI36 |
| NG_011759.1:g.11774A>G | |
| NG_028165.1:g.2738A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698420.1:c.*1062A>G (TAP1) | ENSP00000513708.1:n.*1062A>G | |
| ENST00000698421.1:c.*804A>G (TAP1) | ENSP00000513709.1:n.*804A>G | |
| ENST00000698422.1:c.1721A>G (TAP1) | ENSP00000513710.1:p.Asp574Gly | |
| ENST00000698423.1:c.1910A>G (TAP1) | ENSP00000513711.1:p.Asp637Gly | |
| ENST00000698424.1:c.1781A>G (TAP1) | ENSP00000513712.1:p.Asp594Gly | |
| ENST00000354258.5:c.1910A>G (TAP1) MANE Select | ENSP00000346206.5:p.Asp637Gly | |
| ENST00000643049.2:c.455A>G (TAP1) | ENSP00000494148.2:p.Asp152Gly | |
| ENST00000643923.1:n.1346A>G (TAP1) | ||
| ENST00000645078.1:n.1505A>G (TAP1) | ||
| ENST00000354258.4:c.2090A>G (TAP1) | ENSP00000346206.4:p.Asp697Gly | |
| ENST00000395330.5:c.-10+2924T>C (PSMB9) | ENSP00000378739.1:n.-10+2924T>C | |
| ENST00000414474.5:c.-10+2328T>C (PSMB9) | ENSP00000394363.1:n.-10+2328T>C | |
| ENST00000486332.1:n.1835A>G (TAP1) | ||
| ENST00000487296.1:n.790A>G (TAP1) | ||
| NM_000593.5:c.2090A>G (TAP1) | NP_000584.2:p.Asp697Gly | |
| NM_001292022.1:c.1307A>G (TAP1) | NP_001278951.1:p.Asp436Gly | |
| NM_001292022.2:c.1307A>G (TAP1) | NP_001278951.1:p.Asp436Gly | |
| NM_000593.6:c.1910A>G (TAP1) MANE Select | NP_000584.3:p.Asp637Gly |