This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004279 (AMR)
Exomes Max Group AF
0.00005521 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72581017G>A , CM000685.2:g.72581017G>A | GRCh38 |
| NC_000023.10:g.71800867G>A , CM000685.1:g.71800867G>A | GRCh37 |
| NC_000023.9:g.71717592G>A | NCBI36 |
| NG_016599.1:g.138163C>T | |
| NG_016599.2:g.138165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373542.9:c.3657C>T MANE Select | ENSP00000362643.4:p.Ile1219= | |
| ENST00000339490.7:c.3618C>T | ENSP00000342469.3:p.Ile1206= | |
| ENST00000373539.3:c.3708C>T | ENSP00000362640.3:p.Ile1236= | |
| ENST00000373542.8:c.3657C>T | ENSP00000362643.4:p.Ile1219= | |
| ENST00000373545.7:c.3531C>T | ENSP00000362646.3:p.Ile1177= | |
| ENST00000541944.5:c.3441C>T | ENSP00000441251.1:p.Ile1147= | |
| NM_001122670.1:c.3618C>T | NP_001116142.1:p.Ile1206= | |
| NM_001172436.1:c.3441C>T | NP_001165907.1:p.Ile1147= | |
| NM_002637.3:c.3657C>T | NP_002628.2:p.Ile1219= | |
| XM_006724661.2:c.3480C>T | XP_006724724.1:p.Ile1160= | |
| XR_001755696.1:n.4587C>T | ||
| NM_002637.4:c.3657C>T MANE Select | NP_002628.2:p.Ile1219= | |
| NM_001122670.2:c.3618C>T | NP_001116142.1:p.Ile1206= | |
| NM_001172436.2:c.3441C>T | NP_001165907.1:p.Ile1147= |