Linked Data
ClinVar Variation Id:
412286
dbSNP Id:
rs759253107
ExAC:
11:66283015 G / A
gnomAD v2:
11-66283015-G-A
gnomAD v3:
11-66515544-G-A
gnomAD v4:
11-66515544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515544G>A , CM000673.2:g.66515544G>A | GRCh38 |
| NC_000011.9:g.66283015G>A , CM000673.1:g.66283015G>A | GRCh37 |
| NC_000011.8:g.66039591G>A | NCBI36 |
| NG_009093.1:g.9897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.437G>A MANE Select | ENSP00000317469.7:p.Arg146Gln | |
| ENST00000318312.11:c.437G>A | ENSP00000317469.7:p.Arg146Gln | |
| ENST00000393994.4:c.437G>A | ENSP00000377563.2:p.Arg146Gln | |
| ENST00000419755.3:c.548G>A | ENSP00000398526.3:p.Arg183Gln | |
| ENST00000455748.6:c.432+866G>A | ENSP00000405764.2:n.432+866G>A | |
| ENST00000524458.5:c.*140-149G>A | ENSP00000436195.1:n.*140-149G>A | |
| ENST00000524705.2:c.158G>A | ENSP00000436927.1:p.Arg53Gln | |
| ENST00000524907.5:n.427G>A | ||
| ENST00000525809.5:c.164G>A | ENSP00000431187.1:p.Arg55Gln | |
| ENST00000526035.5:c.*144G>A | ENSP00000434197.1:n.*144G>A | |
| ENST00000526760.5:c.*144G>A | ENSP00000432140.1:n.*144G>A | |
| ENST00000527251.5:c.*144G>A | ENSP00000434360.1:n.*144G>A | |
| ENST00000529766.5:n.444G>A | ||
| ENST00000529953.5:n.89G>A | ||
| ENST00000529955.5:n.451-149G>A | ||
| ENST00000532908.5:c.*140-149G>A | ENSP00000431866.1:n.*140-149G>A | |
| ENST00000533430.5:n.215G>A | ||
| ENST00000533557.5:c.*140-149G>A | ENSP00000434619.1:n.*140-149G>A | |
| ENST00000533644.5:c.433-149G>A | ENSP00000436073.1:n.433-149G>A | |
| ENST00000534730.5:n.449G>A | ||
| ENST00000630659.2:c.*144G>A | ENSP00000486455.1:n.*144G>A | |
| NM_024649.4:c.437G>A | NP_078925.3:p.Arg146Gln | |
| NM_024649.5:c.437G>A MANE Select | NP_078925.3:p.Arg146Gln |