ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31141540A>G , CM000670.2:g.31141540A>G | GRCh38 |
| NC_000008.10:g.30999056A>G , CM000670.1:g.30999056A>G | GRCh37 |
| NC_000008.9:g.31118598A>G | NCBI36 |
| NG_008870.1:g.113279A>G , LRG_524:g.113279A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3078A>G MANE Select | ENSP00000298139.5:p.Gly1026= | |
| ENST00000650667.1:c.*2692A>G | ENSP00000498593.1:n.*2692A>G | |
| ENST00000298139.5:c.3078A>G | ENSP00000298139.5:p.Gly1026= | |
| ENST00000521620.5:n.1711A>G | ||
| NM_000553.4:c.3078A>G , LRG_524t1:c.3078A>G | NP_000544.2:p.Gly1026= | |
| XM_011544639.1:c.2997A>G | XP_011542941.1:p.Gly999= | |
| XM_011544640.1:c.1479A>G | XP_011542942.1:p.Gly493= | |
| XR_949470.1:n.3351A>G | ||
| XR_949471.1:n.3351A>G | ||
| XR_949472.1:n.3351A>G | ||
| NM_000553.5:c.3078A>G | NP_000544.2:p.Gly1026= | |
| XM_011544639.3:c.2997A>G | XP_011542941.1:p.Gly999= | |
| XM_024447265.1:c.2868A>G | XP_024303033.1:p.Gly956= | |
| XR_949470.3:n.3379A>G | ||
| XR_949471.3:n.3379A>G | ||
| XR_949472.3:n.3379A>G | ||
| NM_000553.6:c.3078A>G MANE Select | NP_000544.2:p.Gly1026= |