Linked Data
ClinVar Variation Id:
7294
dbSNP Id:
rs104894208
gnomAD v4:
11-88296165-T-C
PubMed:
PMID:10662807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88296165T>C , CM000673.2:g.88296165T>C | GRCh38 |
| NC_000011.9:g.88029333T>C , CM000673.1:g.88029333T>C | GRCh37 |
| NC_000011.8:g.87668981T>C | NCBI36 |
| NG_007952.1:g.46609A>G , LRG_50:g.46609A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227266.10:c.857A>G MANE Select | ENSP00000227266.4:p.Gln286Arg | |
| ENST00000527018.6:c.857A>G | ENSP00000432556.2:p.Gln286Arg | |
| ENST00000533897.2:n.5170A>G | ||
| ENST00000676612.1:c.*664A>G | ENSP00000504440.1:n.*664A>G | |
| ENST00000677208.1:c.*363A>G | ENSP00000504347.1:n.*363A>G | |
| ENST00000677661.1:c.*534A>G | ENSP00000503323.1:n.*534A>G | |
| ENST00000677802.1:c.*534A>G | ENSP00000504115.1:n.*534A>G | |
| ENST00000678395.1:c.*363A>G | ENSP00000503123.1:n.*363A>G | |
| ENST00000678464.1:c.857A>G | ENSP00000503046.1:p.Gln286Arg | |
| ENST00000678506.1:c.818A>G | ENSP00000503580.1:p.Gln273Arg | |
| ENST00000678520.1:c.*508A>G | ENSP00000503361.1:n.*508A>G | |
| ENST00000678554.1:c.857A>G | ENSP00000504541.1:p.Gln286Arg | |
| ENST00000678915.1:c.758-1657A>G | ENSP00000504805.1:n.758-1657A>G | |
| ENST00000679224.1:c.494A>G | ENSP00000504475.1:p.Gln165Arg | |
| ENST00000227266.9:c.857A>G | ENSP00000227266.4:p.Gln286Arg | |
| ENST00000527018.5:c.727A>G | ||
| ENST00000533897.1:n.3591A>G | ||
| NM_001814.4:c.857A>G , LRG_50t1:c.857A>G | NP_001805.3:p.Gln286Arg | |
| NM_001814.5:c.857A>G | NP_001805.3:p.Gln286Arg | |
| NM_001814.6:c.857A>G MANE Select | NP_001805.4:p.Gln286Arg |