Linked Data
ClinVar Variation Id:
305457
dbSNP Id:
rs369843749
ExAC:
11:66281907 C / G
gnomAD v2:
11-66281907-C-G
gnomAD v3:
11-66514436-C-G
gnomAD v4:
11-66514436-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514436C>G , CM000673.2:g.66514436C>G | GRCh38 |
| NC_000011.9:g.66281907C>G , CM000673.1:g.66281907C>G | GRCh37 |
| NC_000011.8:g.66038483C>G | NCBI36 |
| NG_009093.1:g.8789C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.190C>G MANE Select | ENSP00000317469.7:p.Gln64Glu | |
| ENST00000318312.11:c.190C>G | ENSP00000317469.7:p.Gln64Glu | |
| ENST00000393994.4:c.190C>G | ENSP00000377563.2:p.Gln64Glu | |
| ENST00000419755.3:c.301C>G | ENSP00000398526.3:p.Gln101Glu | |
| ENST00000455748.6:c.190C>G | ENSP00000405764.2:p.Gln64Glu | |
| ENST00000524458.5:c.65C>G | ENSP00000436195.1:p.Ala22Gly | |
| ENST00000524705.2:c.-20-70C>G | ENSP00000436927.1:n.-20-70C>G | |
| ENST00000524907.5:n.180C>G | ||
| ENST00000525809.5:c.160-1104C>G | ENSP00000431187.1:n.160-1104C>G | |
| ENST00000526035.5:c.155C>G | ENSP00000434197.1:p.Ala52Gly | |
| ENST00000526760.5:c.155C>G | ENSP00000432140.1:p.Ala52Gly | |
| ENST00000526815.5:c.100C>G | ENSP00000436860.1:p.Gln34Glu | |
| ENST00000527251.5:c.65C>G | ENSP00000434360.1:p.Ala22Gly | |
| ENST00000529766.5:n.197C>G | ||
| ENST00000529955.5:n.208C>G | ||
| ENST00000532908.5:c.155C>G | ENSP00000431866.1:p.Ala52Gly | |
| ENST00000533557.5:c.155C>G | ENSP00000434619.1:p.Ala52Gly | |
| ENST00000533644.5:c.190C>G | ENSP00000436073.1:p.Gln64Glu | |
| ENST00000534730.5:n.202C>G | ||
| ENST00000630659.2:c.155C>G | ENSP00000486455.1:p.Ala52Gly | |
| NM_024649.4:c.190C>G | NP_078925.3:p.Gln64Glu | |
| NM_024649.5:c.190C>G MANE Select | NP_078925.3:p.Gln64Glu |