Linked Data
ClinVar Variation Id:
120253
dbSNP Id:
rs199701571
ExAC:
12:8976358 C / G
gnomAD v2:
12-8976358-C-G
gnomAD v3:
12-8823762-C-G
gnomAD v4:
12-8823762-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8823762C>G , CM000674.2:g.8823762C>G | GRCh38 |
| NC_000012.11:g.8976358C>G , CM000674.1:g.8976358C>G | GRCh37 |
| NC_000012.10:g.8867625C>G | NCBI36 |
| NG_042857.1:g.6291C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299698.12:c.289C>G MANE Select | ENSP00000299698.7:p.Arg97Gly | |
| ENST00000299698.11:c.289C>G | ENSP00000299698.7:p.Arg97Gly | |
| ENST00000537546.1:n.113C>G | ||
| NM_144670.4:c.289C>G | NP_653271.2:p.Arg97Gly | |
| NM_144670.5:c.289C>G | NP_653271.2:p.Arg97Gly | |
| XM_011520566.1:c.289C>G | XP_011518868.1:p.Arg97Gly | |
| XM_011520567.1:c.289C>G | XP_011518869.1:p.Arg97Gly | |
| XR_931275.1:n.387C>G | ||
| XM_011520566.2:c.289C>G | XP_011518868.1:p.Arg97Gly | |
| XM_011520567.2:c.289C>G | XP_011518869.1:p.Arg97Gly | |
| XM_017018868.1:c.289C>G | XP_016874357.1:p.Arg97Gly | |
| XM_017018869.1:c.289C>G | XP_016874358.1:p.Arg97Gly | |
| XM_017018870.1:c.289C>G | XP_016874359.1:p.Arg97Gly | |
| XR_001748594.1:n.387C>G | ||
| NM_144670.6:c.289C>G MANE Select | NP_653271.3:p.Arg97Gly |