Linked Data
ClinVar Variation Id:
534714
dbSNP Id:
rs2228106
ExAC:
6:32816448 G / A
gnomAD v2:
6-32816448-G-A
gnomAD v3:
6-32848671-G-A
gnomAD v4:
6-32848671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32848671G>A , CM000668.2:g.32848671G>A | GRCh38 |
| NC_000006.11:g.32816448G>A , CM000668.1:g.32816448G>A | GRCh37 |
| NC_000006.10:g.32924426G>A | NCBI36 |
| NG_011759.1:g.10301C>T | |
| NG_028165.1:g.1265C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698420.1:c.*699C>T (TAP1) | ENSP00000513708.1:n.*699C>T | |
| ENST00000698421.1:c.*441C>T (TAP1) | ENSP00000513709.1:n.*441C>T | |
| ENST00000698422.1:c.1377+319C>T (TAP1) | ENSP00000513710.1:n.1377+319C>T | |
| ENST00000698423.1:c.1547C>T (TAP1) | ENSP00000513711.1:p.Pro516Leu | |
| ENST00000698424.1:c.1418C>T (TAP1) | ENSP00000513712.1:p.Pro473Leu | |
| ENST00000354258.5:c.1547C>T (TAP1) MANE Select | ENSP00000346206.5:p.Pro516Leu | |
| ENST00000643049.2:c.142-609C>T (TAP1) | ENSP00000494148.2:n.142-609C>T | |
| ENST00000643923.1:n.983C>T (TAP1) | ||
| ENST00000645078.1:n.1142C>T (TAP1) | ||
| ENST00000354258.4:c.1727C>T (TAP1) | ENSP00000346206.4:p.Pro576Leu | |
| ENST00000395330.5:c.-10+4397G>A (PSMB9) | ENSP00000378739.1:n.-10+4397G>A | |
| ENST00000414474.5:c.-10+3801G>A (PSMB9) | ENSP00000394363.1:n.-10+3801G>A | |
| ENST00000486332.1:n.1472C>T (TAP1) | ||
| NM_000593.5:c.1727C>T (TAP1) | NP_000584.2:p.Pro576Leu | |
| NM_001292022.1:c.944C>T (TAP1) | NP_001278951.1:p.Pro315Leu | |
| NM_001292022.2:c.944C>T (TAP1) | NP_001278951.1:p.Pro315Leu | |
| NM_000593.6:c.1547C>T (TAP1) MANE Select | NP_000584.3:p.Pro516Leu |