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
0.00004284 (AMR)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00004358 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111776156C>T , CM000663.2:g.111776156C>T | GRCh38 |
| NC_000001.10:g.112318778C>T , CM000663.1:g.112318778C>T | GRCh37 |
| NC_000001.9:g.112120301C>T | NCBI36 |
| NG_032011.2:g.218000G>A , LRG_445:g.218000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302127.5:c.1889G>A MANE Select | ENSP00000306923.4:p.Arg630Gln | |
| ENST00000302127.4:c.1832G>A | ENSP00000306923.3:p.Arg611Gln | |
| ENST00000315987.6:c.1889G>A | ENSP00000319591.2:p.Arg630Gln | |
| ENST00000369697.5:c.1832G>A | ENSP00000358711.1:p.Arg611Gln | |
| NM_004980.4:c.1889G>A , LRG_445t1:c.1889G>A | NP_004971.2:p.Arg630Gln | |
| NM_172198.2:c.1832G>A | NP_751948.1:p.Arg611Gln | |
| XM_005270851.3:c.1889G>A | XP_005270908.1:p.Arg630Gln | |
| XM_006710629.2:c.1889G>A | XP_006710692.1:p.Arg630Gln | |
| XM_006710630.2:c.1832G>A | XP_006710693.1:p.Arg611Gln | |
| XM_005270851.4:c.1889G>A | XP_005270908.1:p.Arg630Gln | |
| XM_006710629.4:c.1889G>A | XP_006710692.1:p.Arg630Gln | |
| XM_006710630.3:c.1832G>A | XP_006710693.1:p.Arg611Gln | |
| XM_017001244.2:c.1889G>A | XP_016856733.1:p.Arg630Gln | |
| NM_001378969.1:c.1889G>A MANE Select | NP_001365898.1:p.Arg630Gln | |
| NM_001378970.1:c.1832G>A | NP_001365899.1:p.Arg611Gln | |
| NM_004980.5:c.1889G>A | NP_004971.2:p.Arg630Gln | |
| NM_172198.3:c.1832G>A | NP_751948.1:p.Arg611Gln |