Linked Data
ClinVar Variation Id:
7292
dbSNP Id:
rs104894209
gnomAD v2:
11-88029334-G-A
gnomAD v3:
11-88296166-G-A
gnomAD v4:
11-88296166-G-A
PubMed:
PMID:10593994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88296166G>A , CM000673.2:g.88296166G>A | GRCh38 |
| NC_000011.9:g.88029334G>A , CM000673.1:g.88029334G>A | GRCh37 |
| NC_000011.8:g.87668982G>A | NCBI36 |
| NG_007952.1:g.46608C>T , LRG_50:g.46608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.856C>T MANE Select | ENSP00000227266.4:p.Gln286Ter | |
| ENST00000527018.6:c.856C>T | ENSP00000432556.2:p.Gln286Ter | |
| ENST00000533897.2:n.5169C>T | ||
| ENST00000676612.1:c.*663C>T | ENSP00000504440.1:n.*663C>T | |
| ENST00000677208.1:c.*362C>T | ENSP00000504347.1:n.*362C>T | |
| ENST00000677661.1:c.*533C>T | ENSP00000503323.1:n.*533C>T | |
| ENST00000677802.1:c.*533C>T | ENSP00000504115.1:n.*533C>T | |
| ENST00000678395.1:c.*362C>T | ENSP00000503123.1:n.*362C>T | |
| ENST00000678464.1:c.856C>T | ENSP00000503046.1:p.Gln286Ter | |
| ENST00000678506.1:c.817C>T | ENSP00000503580.1:p.Gln273Ter | |
| ENST00000678520.1:c.*507C>T | ENSP00000503361.1:n.*507C>T | |
| ENST00000678554.1:c.856C>T | ENSP00000504541.1:p.Gln286Ter | |
| ENST00000678915.1:c.758-1658C>T | ENSP00000504805.1:n.758-1658C>T | |
| ENST00000679224.1:c.493C>T | ENSP00000504475.1:p.Gln165Ter | |
| ENST00000227266.9:c.856C>T | ENSP00000227266.4:p.Gln286Ter | |
| ENST00000527018.5:c.726C>T | ||
| ENST00000533897.1:n.3590C>T | ||
| NM_001814.4:c.856C>T , LRG_50t1:c.856C>T | NP_001805.3:p.Gln286Ter | |
| NM_001814.5:c.856C>T | NP_001805.3:p.Gln286Ter | |
| NM_001814.6:c.856C>T MANE Select | NP_001805.4:p.Gln286Ter |