ClinVar Variation:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31124959A>G , CM000670.2:g.31124959A>G | GRCh38 |
| NC_000008.10:g.30982475A>G , CM000670.1:g.30982475A>G | GRCh37 |
| NC_000008.9:g.31102017A>G | NCBI36 |
| NG_008870.1:g.96698A>G , LRG_524:g.96698A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.2784A>G MANE Select | ENSP00000298139.5:p.Gly928= | |
| ENST00000650667.1:c.*2398A>G | ENSP00000498593.1:n.*2398A>G | |
| ENST00000298139.5:c.2784A>G | ENSP00000298139.5:p.Gly928= | |
| ENST00000520169.1:n.623A>G | ||
| ENST00000521620.5:n.1417A>G | ||
| NM_000553.4:c.2784A>G , LRG_524t1:c.2784A>G | NP_000544.2:p.Gly928= | |
| XM_011544639.1:c.2703A>G | XP_011542941.1:p.Gly901= | |
| XM_011544640.1:c.1185A>G | XP_011542942.1:p.Gly395= | |
| XR_949470.1:n.3057A>G | ||
| XR_949471.1:n.3057A>G | ||
| XR_949472.1:n.3057A>G | ||
| NM_000553.5:c.2784A>G | NP_000544.2:p.Gly928= | |
| XM_011544639.3:c.2703A>G | XP_011542941.1:p.Gly901= | |
| XM_024447265.1:c.2574A>G | XP_024303033.1:p.Gly858= | |
| XR_949470.3:n.3085A>G | ||
| XR_949471.3:n.3085A>G | ||
| XR_949472.3:n.3085A>G | ||
| NM_000553.6:c.2784A>G MANE Select | NP_000544.2:p.Gly928= |