This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
gnomAD v4:
Joint Max Group AF
0.00000886 (EAS)
Exomes Max Group AF
0.00001027 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186122801T>G , CM000663.2:g.186122801T>G | GRCh38 |
| NC_000001.10:g.186091933T>G , CM000663.1:g.186091933T>G | GRCh37 |
| NC_000001.9:g.184358556T>G | NCBI36 |
| NG_011841.1:g.393251T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12230-150T>G MANE Select | ENSP00000271588.4:n.12230-150T>G | |
| ENST00000271588.8:c.12230-150T>G | ENSP00000271588.4:n.12230-150T>G | |
| NM_031935.2:c.12230-150T>G | NP_114141.2:n.12230-150T>G | |
| XM_011510037.1:c.11945-150T>G | XP_011508339.1:n.11945-150T>G | |
| XM_011510038.1:c.12230-150T>G | XP_011508340.1:n.12230-150T>G | |
| XM_011510039.1:c.12230-150T>G | XP_011508341.1:n.12230-150T>G | |
| XM_011510038.3:c.12230-150T>G | XP_011508340.1:n.12230-150T>G | |
| XM_017002437.1:c.10253-150T>G | XP_016857926.1:n.10253-150T>G | |
| NM_031935.3:c.12230-150T>G MANE Select | NP_114141.2:n.12230-150T>G |