Linked Data
ClinVar Variation Id:
516169
dbSNP Id:
rs370848417
ExAC:
7:5567418 G / A
gnomAD v2:
7-5567418-G-A
gnomAD v3:
7-5527787-G-A
gnomAD v4:
7-5527787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5527787G>A , CM000669.2:g.5527787G>A | GRCh38 |
| NC_000007.13:g.5567418G>A , CM000669.1:g.5567418G>A | GRCh37 |
| NC_000007.12:g.5533944G>A | NCBI36 |
| NG_007992.1:g.7815C>T , LRG_132:g.7815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473257.3:c.960C>T | ENSP00000501773.1:p.Asp320= | |
| ENST00000477812.2:n.1636C>T | ||
| ENST00000493945.6:c.1089C>T | ENSP00000494269.1:p.Asp363= | |
| ENST00000642480.2:c.1089C>T | ENSP00000495995.2:p.Asp363= | |
| ENST00000646664.1:c.1089C>T MANE Select | ENSP00000494750.1:p.Asp363= | |
| ENST00000674681.1:c.1089C>T | ENSP00000502821.1:p.Asp363= | |
| ENST00000675515.1:c.1089C>T | ENSP00000501862.1:p.Asp363= | |
| ENST00000676189.1:c.*632C>T | ENSP00000502538.1:n.*632C>T | |
| ENST00000676319.1:c.88-4C>T | ENSP00000502193.1:n.88-4C>T | |
| ENST00000676397.1:c.*95C>T | ENSP00000502286.1:n.*95C>T | |
| ENST00000331789.9:c.1089C>T | ENSP00000349960.4:p.Asp363= | |
| ENST00000425660.5:c.*752C>T | ENSP00000409264.1:n.*752C>T | |
| ENST00000462494.5:n.1614C>T | ||
| ENST00000464611.1:n.200C>T | ||
| ENST00000493945.5:n.1190C>T | ||
| NM_001101.3:c.1089C>T , LRG_132t1:c.1089C>T | NP_001092.1:p.Asp363= | |
| XM_006715764.1:c.723C>T | XP_006715827.1:p.Asp241= | |
| NM_001101.4:c.1089C>T | NP_001092.1:p.Asp363= | |
| NM_001101.5:c.1089C>T MANE Select | NP_001092.1:p.Asp363= |