Linked Data
ClinVar Variation Id:
2941977
ClinVar RCV Id:
RCV003802999
dbSNP Id:
rs749327530
ExAC:
11:88033681 T / C
gnomAD v4:
11-88300513-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88300513T>C , CM000673.2:g.88300513T>C | GRCh38 |
| NC_000011.9:g.88033681T>C , CM000673.1:g.88033681T>C | GRCh37 |
| NC_000011.8:g.87673329T>C | NCBI36 |
| NG_007952.1:g.42261A>G , LRG_50:g.42261A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.757+17A>G MANE Select | ENSP00000227266.4:n.757+17A>G | |
| ENST00000527018.6:c.757+17A>G | ENSP00000432556.2:n.757+17A>G | |
| ENST00000533897.2:n.822A>G | ||
| ENST00000676612.1:c.*564+17A>G | ENSP00000504440.1:n.*564+17A>G | |
| ENST00000677208.1:c.*263+17A>G | ENSP00000504347.1:n.*263+17A>G | |
| ENST00000677661.1:c.*434+17A>G | ENSP00000503323.1:n.*434+17A>G | |
| ENST00000677802.1:c.*434+17A>G | ENSP00000504115.1:n.*434+17A>G | |
| ENST00000678065.1:n.334A>G | ||
| ENST00000678395.1:c.*263+17A>G | ENSP00000503123.1:n.*263+17A>G | |
| ENST00000678464.1:c.757+17A>G | ENSP00000503046.1:n.757+17A>G | |
| ENST00000678506.1:c.718+17A>G | ENSP00000503580.1:n.718+17A>G | |
| ENST00000678520.1:c.*408+17A>G | ENSP00000503361.1:n.*408+17A>G | |
| ENST00000678554.1:c.757+17A>G | ENSP00000504541.1:n.757+17A>G | |
| ENST00000678915.1:c.757+17A>G | ENSP00000504805.1:n.757+17A>G | |
| ENST00000679224.1:c.394+17A>G | ENSP00000504475.1:n.394+17A>G | |
| ENST00000227266.9:c.757+17A>G | ENSP00000227266.4:n.757+17A>G | |
| ENST00000527018.5:c.627+17A>G | ||
| NM_001814.4:c.757+17A>G , LRG_50t1:c.757+17A>G | NP_001805.3:n.757+17A>G | |
| NM_001814.5:c.757+17A>G | NP_001805.3:n.757+17A>G | |
| NM_001814.6:c.757+17A>G MANE Select | NP_001805.4:n.757+17A>G |