Linked Data
ClinVar Variation Id:
306426
dbSNP Id:
rs766063253
ExAC:
11:88033726 G / A
gnomAD v2:
11-88033726-G-A
gnomAD v4:
11-88300558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88300558G>A , CM000673.2:g.88300558G>A | GRCh38 |
| NC_000011.9:g.88033726G>A , CM000673.1:g.88033726G>A | GRCh37 |
| NC_000011.8:g.87673374G>A | NCBI36 |
| NG_007952.1:g.42216C>T , LRG_50:g.42216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.729C>T MANE Select | ENSP00000227266.4:p.Ile243= | |
| ENST00000527018.6:c.729C>T | ENSP00000432556.2:p.Ile243= | |
| ENST00000533897.2:n.777C>T | ||
| ENST00000676612.1:c.*536C>T | ENSP00000504440.1:n.*536C>T | |
| ENST00000677208.1:c.*235C>T | ENSP00000504347.1:n.*235C>T | |
| ENST00000677661.1:c.*406C>T | ENSP00000503323.1:n.*406C>T | |
| ENST00000677802.1:c.*406C>T | ENSP00000504115.1:n.*406C>T | |
| ENST00000678065.1:n.289C>T | ||
| ENST00000678395.1:c.*235C>T | ENSP00000503123.1:n.*235C>T | |
| ENST00000678464.1:c.729C>T | ENSP00000503046.1:p.Ile243= | |
| ENST00000678506.1:c.690C>T | ENSP00000503580.1:p.Ile230= | |
| ENST00000678520.1:c.*380C>T | ENSP00000503361.1:n.*380C>T | |
| ENST00000678554.1:c.729C>T | ENSP00000504541.1:p.Ile243= | |
| ENST00000678915.1:c.729C>T | ENSP00000504805.1:p.Ile243= | |
| ENST00000679224.1:c.366C>T | ENSP00000504475.1:p.Ile122= | |
| ENST00000227266.9:c.729C>T | ENSP00000227266.4:p.Ile243= | |
| ENST00000527018.5:c.599C>T | ||
| NM_001814.4:c.729C>T , LRG_50t1:c.729C>T | NP_001805.3:p.Ile243= | |
| NM_001814.5:c.729C>T | NP_001805.3:p.Ile243= | |
| NM_001814.6:c.729C>T MANE Select | NP_001805.4:p.Ile243= |