gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00096144 (AMR)
Genomes Max Group AF
0.00185821 (AMR)
Exomes Max Group AF
0.00053952 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939542C>T , CM000673.2:g.68939542C>T | GRCh38 |
| NC_000011.9:g.68707010C>T , CM000673.1:g.68707010C>T | GRCh37 |
| NC_000011.8:g.68463586C>T | NCBI36 |
| NG_007976.1:g.40692C>T , LRG_250:g.40692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2793C>T MANE Select | ENSP00000255078.4:p.Gly931= | |
| ENST00000675118.1:c.2281C>T | ||
| ENST00000675615.1:c.2620C>T | ENSP00000502413.1:p.Leu874= | |
| ENST00000675648.1:n.2355C>T | ||
| ENST00000675916.1:c.1224C>T | ||
| ENST00000676173.1:n.3538C>T | ||
| ENST00000255078.7:c.2793C>T | ENSP00000255078.3:p.Gly931= | |
| ENST00000543739.5:n.1786C>T | ||
| ENST00000544521.1:n.624C>T | ||
| NM_002180.2:c.2793C>T , LRG_250t1:c.2793C>T | NP_002171.2:p.Gly931= | |
| XM_005273974.2:c.1782C>T | XP_005274031.1:p.Gly594= | |
| XM_005273975.2:c.1665C>T | XP_005274032.1:p.Gly555= | |
| XM_011544994.1:c.1560C>T | XP_011543296.1:p.Gly520= | |
| XR_949903.1:n.3082C>T | ||
| XM_005273975.3:c.1665C>T | XP_005274032.1:p.Gly555= | |
| XM_017017669.2:c.1782C>T | XP_016873158.1:p.Gly594= | |
| XM_017017670.2:c.1782C>T | XP_016873159.1:p.Gly594= | |
| XR_949903.3:n.3078C>T | ||
| NM_002180.3:c.2793C>T MANE Select | NP_002171.2:p.Gly931= |