Linked Data
ClinVar Variation Id:
2044326
dbSNP Id:
rs757307889
gnomAD v2:
11-66282016-G-A
gnomAD v3:
11-66514545-G-A
gnomAD v4:
11-66514545-G-A
COSMIC:
COSM415803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514545G>A , CM000673.2:g.66514545G>A | GRCh38 |
| NC_000011.9:g.66282016G>A , CM000673.1:g.66282016G>A | GRCh37 |
| NC_000011.8:g.66038592G>A | NCBI36 |
| NG_009093.1:g.8898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.299G>A MANE Select | ENSP00000317469.7:p.Arg100Gln | |
| ENST00000318312.11:c.299G>A | ENSP00000317469.7:p.Arg100Gln | |
| ENST00000393994.4:c.299G>A | ENSP00000377563.2:p.Arg100Gln | |
| ENST00000419755.3:c.410G>A | ENSP00000398526.3:p.Arg137Gln | |
| ENST00000455748.6:c.299G>A | ENSP00000405764.2:p.Arg100Gln | |
| ENST00000524458.5:c.*6G>A | ENSP00000436195.1:n.*6G>A | |
| ENST00000524705.2:c.20G>A | ENSP00000436927.1:p.Arg7Gln | |
| ENST00000524907.5:n.289G>A | ||
| ENST00000525809.5:c.160-995G>A | ENSP00000431187.1:n.160-995G>A | |
| ENST00000526035.5:c.*6G>A | ENSP00000434197.1:n.*6G>A | |
| ENST00000526760.5:c.*6G>A | ENSP00000432140.1:n.*6G>A | |
| ENST00000527251.5:c.*6G>A | ENSP00000434360.1:n.*6G>A | |
| ENST00000529766.5:n.306G>A | ||
| ENST00000529955.5:n.317G>A | ||
| ENST00000532908.5:c.*6G>A | ENSP00000431866.1:n.*6G>A | |
| ENST00000533430.5:n.77G>A | ||
| ENST00000533557.5:c.*6G>A | ENSP00000434619.1:n.*6G>A | |
| ENST00000533644.5:c.299G>A | ENSP00000436073.1:p.Arg100Gln | |
| ENST00000534730.5:n.311G>A | ||
| ENST00000630659.2:c.*6G>A | ENSP00000486455.1:n.*6G>A | |
| NM_024649.4:c.299G>A | NP_078925.3:p.Arg100Gln | |
| NM_024649.5:c.299G>A MANE Select | NP_078925.3:p.Arg100Gln |