Linked Data
ClinVar Variation Id:
1921662
ClinVar RCV Id:
RCV002613203
dbSNP Id:
rs1328686332
gnomAD v2:
11-66283176-G-A
gnomAD v4:
11-66515705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515705G>A , CM000673.2:g.66515705G>A | GRCh38 |
| NC_000011.9:g.66283176G>A , CM000673.1:g.66283176G>A | GRCh37 |
| NC_000011.8:g.66039752G>A | NCBI36 |
| NG_009093.1:g.10058G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.492G>A MANE Select | ENSP00000317469.7:p.Glu164= | |
| ENST00000318312.11:c.492G>A | ENSP00000317469.7:p.Glu164= | |
| ENST00000393994.4:c.492G>A | ENSP00000377563.2:p.Glu164= | |
| ENST00000419755.3:c.603G>A | ENSP00000398526.3:p.Glu201= | |
| ENST00000455748.6:c.432+1027G>A | ENSP00000405764.2:n.432+1027G>A | |
| ENST00000524458.5:c.*152G>A | ENSP00000436195.1:n.*152G>A | |
| ENST00000524907.5:n.588G>A | ||
| ENST00000525809.5:c.219G>A | ENSP00000431187.1:p.Glu73= | |
| ENST00000526035.5:c.*199G>A | ENSP00000434197.1:n.*199G>A | |
| ENST00000526760.5:c.*199G>A | ENSP00000432140.1:n.*199G>A | |
| ENST00000527251.5:c.*199G>A | ENSP00000434360.1:n.*199G>A | |
| ENST00000528543.1:n.14G>A | ||
| ENST00000529766.5:n.499G>A | ||
| ENST00000529953.5:n.144G>A | ||
| ENST00000529955.5:n.463G>A | ||
| ENST00000532908.5:c.*152G>A | ENSP00000431866.1:n.*152G>A | |
| ENST00000533430.5:n.270G>A | ||
| ENST00000533557.5:c.*152G>A | ENSP00000434619.1:n.*152G>A | |
| ENST00000533644.5:c.445G>A | ENSP00000436073.1:p.Gly149Arg | |
| ENST00000534730.5:n.504G>A | ||
| ENST00000630659.2:c.*199G>A | ENSP00000486455.1:n.*199G>A | |
| NM_024649.4:c.492G>A | NP_078925.3:p.Glu164= | |
| NM_024649.5:c.492G>A MANE Select | NP_078925.3:p.Glu164= |