Linked Data
ClinVar Variation Id:
1502419
ClinVar RCV Id:
RCV002020228
dbSNP Id:
rs1444337339
gnomAD v2:
1-27023222-A-G
gnomAD v3:
1-26696731-A-G
gnomAD v4:
1-26696731-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696731A>G , CM000663.2:g.26696731A>G | GRCh38 |
| NC_000001.10:g.27023222A>G , CM000663.1:g.27023222A>G | GRCh37 |
| NC_000001.9:g.26895809A>G | NCBI36 |
| NG_029965.1:g.5701A>G , LRG_875:g.5701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.328A>G MANE Select | ENSP00000320485.7:p.Arg110Gly | |
| ENST00000430799.7:c.-13+3114A>G | ENSP00000390317.3:n.-13+3114A>G | |
| ENST00000637465.1:c.-13+631A>G | ENSP00000490650.1:n.-13+631A>G | |
| ENST00000324856.11:c.328A>G | ENSP00000320485.7:p.Arg110Gly | |
| ENST00000457599.6:c.328A>G | ENSP00000387636.2:p.Arg110Gly | |
| NM_006015.4:c.328A>G , LRG_875t1:c.328A>G | NP_006006.3:p.Arg110Gly | |
| NM_139135.2:c.328A>G | NP_624361.1:p.Arg110Gly | |
| NM_006015.5:c.328A>G | NP_006006.3:p.Arg110Gly | |
| NM_139135.3:c.328A>G | NP_624361.1:p.Arg110Gly | |
| NM_006015.6:c.328A>G MANE Select | NP_006006.3:p.Arg110Gly | |
| NM_139135.4:c.328A>G | NP_624361.1:p.Arg110Gly |