Linked Data
ClinVar Variation Id:
1761204
ClinVar RCV Id:
RCV002416708
dbSNP Id:
rs764039167
ExAC:
1:15772243 A / G
gnomAD v2:
1-15772243-A-G
gnomAD v4:
1-15445748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445748A>G , CM000663.2:g.15445748A>G | GRCh38 |
| NC_000001.10:g.15772243A>G , CM000663.1:g.15772243A>G | GRCh37 |
| NC_000001.9:g.15644830A>G | NCBI36 |
| NG_009253.1:g.12306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.791A>G MANE Select | ENSP00000365116.4:p.Glu264Gly | |
| ENST00000375943.6:c.*245A>G | ENSP00000365110.2:n.*245A>G | |
| ENST00000375949.4:c.791A>G | ENSP00000365116.4:p.Glu264Gly | |
| ENST00000483406.1:n.555A>G | ||
| NM_007272.2:c.791A>G | NP_009203.2:p.Glu264Gly | |
| XM_011540550.1:c.645A>G | XP_011538852.1:p.Arg215= | |
| NM_007272.3:c.791A>G MANE Select | NP_009203.2:p.Glu264Gly |