This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00054591 (AFR)
Genomes Max Group AF
0.00056015 (AFR)
Exomes Max Group AF
0.00040035 (AFR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28719415G>C , CM000684.2:g.28719415G>C | GRCh38 |
| NC_000022.10:g.29115403G>C , CM000684.1:g.29115403G>C | GRCh37 |
| NC_000022.9:g.27445403G>C | NCBI36 |
| NG_008150.1:g.27420C>G | |
| NG_008150.2:g.27452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.592+5562C>G | ENSP00000396903.2:n.592+5562C>G | |
| ENST00000711048.1:c.663C>G | ENSP00000518557.1:p.Ile221Met | |
| ENST00000402731.6:c.482+5471C>G | ENSP00000384835.2:n.482+5471C>G | |
| ENST00000404276.6:c.663C>G MANE Select | ENSP00000385747.1:p.Ile221Met | |
| ENST00000425190.7:c.-1C>G | ENSP00000390244.2:n.-1C>G | |
| ENST00000649563.1:c.-1C>G | ENSP00000496928.1:n.-1C>G | |
| ENST00000650281.1:c.663C>G | ENSP00000497000.1:p.Ile221Met | |
| ENST00000328354.10:c.663C>G | ENSP00000329178.6:p.Ile221Met | |
| ENST00000348295.7:c.663C>G | ENSP00000329012.5:p.Ile221Met | |
| ENST00000382580.6:c.792C>G | ENSP00000372023.2:p.Ile264Met | |
| ENST00000402731.5:c.663C>G | ENSP00000384835.1:p.Ile221Met | |
| ENST00000403642.5:c.390C>G | ENSP00000384919.1:p.Ile130Met | |
| ENST00000404276.5:c.663C>G | ENSP00000385747.1:p.Ile221Met | |
| ENST00000405598.5:c.663C>G | ENSP00000386087.1:p.Ile221Met | |
| ENST00000416671.5:c.*153C>G | ENSP00000402225.1:n.*153C>G | |
| ENST00000417588.5:c.592+5562C>G | ENSP00000412901.1:n.592+5562C>G | |
| ENST00000425190.6:c.-1C>G | ENSP00000390244.1:n.-1C>G | |
| ENST00000433028.6:c.*388C>G | ENSP00000403659.1:n.*388C>G | |
| ENST00000433728.5:c.663C>G | ENSP00000404400.1:p.Ile221Met | |
| ENST00000439200.5:c.756C>G | ENSP00000408065.1:p.Ile252Met | |
| ENST00000439346.5:c.154+5562C>G | ENSP00000396903.1:n.154+5562C>G | |
| ENST00000447421.5:c.482+5471C>G | ENSP00000397478.2:n.482+5471C>G | |
| ENST00000448511.5:c.553C>G | ENSP00000404567.1:n.553C>G | |
| NM_001005735.1:c.792C>G | NP_001005735.1:p.Ile264Met | |
| NM_001257387.1:c.-1C>G | NP_001244316.1:n.-1C>G | |
| NM_007194.3:c.663C>G | NP_009125.1:p.Ile221Met | |
| NM_145862.2:c.663C>G | NP_665861.1:p.Ile221Met | |
| XM_011529839.1:c.822C>G | XP_011528141.1:p.Ile274Met | |
| XM_011529840.1:c.822C>G | XP_011528142.1:p.Ile274Met | |
| XM_011529841.1:c.611+5471C>G | XP_011528143.1:n.611+5471C>G | |
| XM_011529842.1:c.512+5471C>G | XP_011528144.1:n.512+5471C>G | |
| XM_011529843.1:c.482+5471C>G | XP_011528145.1:n.482+5471C>G | |
| XM_011529844.1:c.822C>G | XP_011528146.1:p.Ile274Met | |
| XM_011529845.1:c.-1C>G | XP_011528147.1:n.-1C>G | |
| XR_937805.1:n.884C>G | ||
| XR_937806.1:n.879C>G | ||
| XR_937807.1:n.879C>G | ||
| NM_001349956.1:c.482+5471C>G | NP_001336885.1:n.482+5471C>G | |
| NM_007194.4:c.663C>G MANE Select | NP_009125.1:p.Ile221Met | |
| XM_011529839.2:c.822C>G | XP_011528141.1:p.Ile274Met | |
| XM_011529840.3:c.822C>G | XP_011528142.1:p.Ile274Met | |
| XM_011529842.2:c.512+5471C>G | XP_011528144.1:n.512+5471C>G | |
| XM_011529844.2:c.822C>G | XP_011528146.1:p.Ile274Met | |
| XM_011529845.2:c.-1C>G | XP_011528147.1:n.-1C>G | |
| XM_017028560.1:c.786C>G | XP_016884049.1:p.Ile262Met | |
| XM_017028561.2:c.-1C>G | XP_016884050.1:n.-1C>G | |
| XM_024452148.1:c.693C>G | XP_024307916.1:p.Ile231Met | |
| XM_024452149.1:c.693C>G | XP_024307917.1:p.Ile231Met | |
| XR_937805.2:n.895C>G | ||
| XR_937806.2:n.895C>G | ||
| XR_937807.2:n.895C>G | ||
| NM_001005735.2:c.792C>G | NP_001005735.1:p.Ile264Met | |
| NM_001257387.2:c.-1C>G | NP_001244316.1:n.-1C>G | |
| NM_001349956.2:c.482+5471C>G | NP_001336885.1:n.482+5471C>G |