dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677985T>C , CM000663.2:g.114677985T>C | GRCh38 |
| NC_000001.10:g.115220606T>C , CM000663.1:g.115220606T>C | GRCh37 |
| NC_000001.9:g.115022129T>C | NCBI36 |
| NG_008012.1:g.22571A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1137A>G | ENSP00000358551.4:p.Gly379= | |
| ENST00000520113.7:c.1149A>G MANE Select | ENSP00000430075.3:p.Gly383= | |
| ENST00000637080.1:c.932A>G | ENSP00000489753.1:n.932A>G | |
| ENST00000639077.1:n.814A>G | ||
| ENST00000369538.3:c.1236A>G | ENSP00000358551.3:p.Gly412= | |
| ENST00000520113.6:c.1248A>G | ENSP00000430075.2:p.Gly416= | |
| NM_000036.2:c.1248A>G | NP_000027.2:p.Gly416= | |
| NM_001172626.1:c.1236A>G | NP_001166097.1:p.Gly412= | |
| NM_000036.3:c.1149A>G MANE Select | NP_000027.3:p.Gly383= | |
| NM_001172626.2:c.1137A>G | NP_001166097.2:p.Gly379= |