Linked Data
ClinVar Variation Id:
466386
ClinVar RCV Id:
RCV000559379
dbSNP Id:
rs74897484
ExAC:
6:32813421 G / T
gnomAD v2:
6-32813421-G-T
gnomAD v3:
6-32845644-G-T
gnomAD v4:
6-32845644-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32845644G>T , CM000668.2:g.32845644G>T | GRCh38 |
| NC_000006.11:g.32813421G>T , CM000668.1:g.32813421G>T | GRCh37 |
| NC_000006.10:g.32921399G>T | NCBI36 |
| NG_011759.1:g.13328C>A | |
| NG_028165.1:g.4292C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698420.1:c.*1334C>A (TAP1) | ENSP00000513708.1:n.*1334C>A | |
| ENST00000698421.1:c.*1076C>A (TAP1) | ENSP00000513709.1:n.*1076C>A | |
| ENST00000698422.1:c.1993C>A (TAP1) | ENSP00000513710.1:p.Gln665Lys | |
| ENST00000698423.1:c.2277C>A (TAP1) | ENSP00000513711.1:p.Ser759Arg | |
| ENST00000698424.1:c.2053C>A (TAP1) | ENSP00000513712.1:p.Gln685Lys | |
| ENST00000354258.5:c.2182C>A (TAP1) MANE Select | ENSP00000346206.5:p.Gln728Lys | |
| ENST00000643049.2:c.727C>A (TAP1) | ENSP00000494148.2:p.Gln243Lys | |
| ENST00000643923.1:n.1618C>A (TAP1) | ||
| ENST00000645078.1:n.1777C>A (TAP1) | ||
| ENST00000354258.4:c.2362C>A (TAP1) | ENSP00000346206.4:p.Gln788Lys | |
| ENST00000395330.5:c.-10+1370G>T (PSMB9) | ENSP00000378739.1:n.-10+1370G>T | |
| ENST00000414474.5:c.-10+774G>T (PSMB9) | ENSP00000394363.1:n.-10+774G>T | |
| ENST00000486332.1:n.2107C>A (TAP1) | ||
| NM_000593.5:c.2362C>A (TAP1) | NP_000584.2:p.Gln788Lys | |
| NM_001292022.1:c.1579C>A (TAP1) | NP_001278951.1:p.Gln527Lys | |
| NR_037173.1:n.642G>T (PSMB8-AS1) | ||
| NR_037174.1:n.504G>T (PSMB8-AS1) | ||
| NR_037175.1:n.477G>T (PSMB8-AS1) | ||
| NR_037176.1:n.416G>T (PSMB8-AS1) | ||
| NM_001292022.2:c.1579C>A (TAP1) | NP_001278951.1:p.Gln527Lys | |
| NM_000593.6:c.2182C>A (TAP1) MANE Select | NP_000584.3:p.Gln728Lys |