Linked Data
ClinVar Variation Id:
306417
dbSNP Id:
rs143736590
ExAC:
11:88027252 G / A
gnomAD v2:
11-88027252-G-A
gnomAD v3:
11-88294084-G-A
gnomAD v4:
11-88294084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294084G>A , CM000673.2:g.88294084G>A | GRCh38 |
| NC_000011.9:g.88027252G>A , CM000673.1:g.88027252G>A | GRCh37 |
| NC_000011.8:g.87666900G>A | NCBI36 |
| NG_007952.1:g.48690C>T , LRG_50:g.48690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.1314C>T MANE Select | ENSP00000227266.4:p.Tyr438= | |
| ENST00000533897.2:n.5627C>T | ||
| ENST00000676612.1:c.*1121C>T | ENSP00000504440.1:n.*1121C>T | |
| ENST00000677208.1:c.*820C>T | ENSP00000504347.1:n.*820C>T | |
| ENST00000677661.1:c.*991C>T | ENSP00000503323.1:n.*991C>T | |
| ENST00000677802.1:c.*991C>T | ENSP00000504115.1:n.*991C>T | |
| ENST00000678395.1:c.*820C>T | ENSP00000503123.1:n.*820C>T | |
| ENST00000678464.1:c.1281C>T | ENSP00000503046.1:p.Tyr427= | |
| ENST00000678506.1:c.1275C>T | ENSP00000503580.1:p.Tyr425= | |
| ENST00000678520.1:c.*965C>T | ENSP00000503361.1:n.*965C>T | |
| ENST00000678554.1:c.889+2049C>T | ENSP00000504541.1:n.889+2049C>T | |
| ENST00000678915.1:c.1182C>T | ENSP00000504805.1:p.Tyr394= | |
| ENST00000679224.1:c.951C>T | ENSP00000504475.1:p.Tyr317= | |
| ENST00000227266.9:c.1314C>T | ENSP00000227266.4:p.Tyr438= | |
| ENST00000533897.1:n.4048C>T | ||
| NM_001814.4:c.1314C>T , LRG_50t1:c.1314C>T | NP_001805.3:p.Tyr438= | |
| NM_001814.5:c.1314C>T | NP_001805.3:p.Tyr438= | |
| NM_001814.6:c.1314C>T MANE Select | NP_001805.4:p.Tyr438= |