Linked Data
ClinVar Variation Id:
1992652
ClinVar RCV Id:
RCV002796080
dbSNP Id:
rs587777673
gnomAD v2:
2-220338454-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219473732C>G , CM000664.2:g.219473732C>G | GRCh38 |
| NC_000002.11:g.220338454C>G , CM000664.1:g.220338454C>G | GRCh37 |
| NC_000002.10:g.220046698C>G | NCBI36 |
| NG_051022.1:g.44518C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312358.12:c.4276C>G MANE Select | ENSP00000311684.7:p.Arg1426Gly | |
| ENST00000312358.11:c.4276C>G | ENSP00000311684.7:p.Arg1426Gly | |
| ENST00000485069.1:n.1513C>G | ||
| ENST00000485813.5:n.3519C>G | ||
| NM_005876.4:c.4276C>G | NP_005867.3:p.Arg1426Gly | |
| XM_005246237.2:c.3994C>G | XP_005246294.1:p.Arg1332Gly | |
| XM_005246239.2:c.1900C>G | XP_005246296.1:p.Arg634Gly | |
| XM_005246240.2:c.1729C>G | XP_005246297.1:p.Arg577Gly | |
| XM_005246241.1:c.1729C>G | XP_005246298.1:p.Arg577Gly | |
| XM_005246242.3:c.1915C>G | XP_005246299.1:p.Arg639Gly | |
| XM_006712189.2:c.3964C>G | XP_006712252.1:p.Arg1322Gly | |
| XM_006712193.2:c.1729C>G | XP_006712256.1:p.Arg577Gly | |
| XM_011510479.1:c.4306C>G | XP_011508781.1:p.Arg1436Gly | |
| XM_011510480.1:c.4306C>G | XP_011508782.1:p.Arg1436Gly | |
| XM_011510481.1:c.4129C>G | XP_011508783.1:p.Arg1377Gly | |
| XM_011510482.1:c.4123C>G | XP_011508784.1:p.Arg1375Gly | |
| XM_011510483.1:c.4045C>G | XP_011508785.1:p.Arg1349Gly | |
| XM_011510484.1:c.3961C>G | XP_011508786.1:p.Arg1321Gly | |
| XM_011510485.1:c.4306C>G | XP_011508787.1:p.Arg1436Gly | |
| XM_011510486.1:c.4306C>G | XP_011508788.1:p.Arg1436Gly | |
| XM_005246242.4:c.1915C>G | XP_005246299.1:p.Arg639Gly | |
| XM_006712189.3:c.3964C>G | XP_006712252.1:p.Arg1322Gly | |
| XM_006712193.3:c.1729C>G | XP_006712256.1:p.Arg577Gly | |
| XM_011510479.2:c.4306C>G | XP_011508781.1:p.Arg1436Gly | |
| XM_011510483.2:c.4024C>G | XP_011508785.2:p.Arg1342Gly | |
| XM_017003157.1:c.4024C>G | XP_016858646.1:p.Arg1342Gly | |
| XM_017003158.2:c.1729C>G | XP_016858647.1:p.Arg577Gly | |
| XM_017003159.2:c.1900C>G | XP_016858648.1:p.Arg634Gly | |
| XM_017003160.1:c.-706C>G | XP_016858649.1:n.-706C>G | |
| XR_001738587.2:n.3568C>G | ||
| NM_005876.5:c.4276C>G MANE Select | NP_005867.3:p.Arg1426Gly |