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
0.0004566 (SAS)
Genomes Max Group AF
0.00054147 (SAS)
Exomes Max Group AF
0.00042067 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37045501A>G , CM000667.2:g.37045501A>G | GRCh38 |
| NC_000005.9:g.37045603A>G , CM000667.1:g.37045603A>G | GRCh37 |
| NC_000005.8:g.37081360A>G | NCBI36 |
| NG_006987.1:g.173619A>G | |
| NG_006987.2:g.173619A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.6402A>G MANE Select | ENSP00000282516.8:p.Leu2134= | |
| ENST00000652901.1:c.6402A>G | ENSP00000499536.1:p.Leu2134= | |
| ENST00000282516.12:c.6402A>G | ENSP00000282516.8:p.Leu2134= | |
| ENST00000448238.2:c.6402A>G | ENSP00000406266.2:p.Leu2134= | |
| ENST00000621733.1:c.1-19077A>G | ENSP00000480694.1:n.1-19077A>G | |
| NM_015384.4:c.6402A>G | NP_056199.2:p.Leu2134= | |
| NM_133433.3:c.6402A>G | NP_597677.2:p.Leu2134= | |
| XM_005248280.2:c.6402A>G | XP_005248337.1:p.Leu2134= | |
| XM_005248282.3:c.5658A>G | XP_005248339.2:p.Leu1886= | |
| XM_006714467.2:c.6402A>G | XP_006714530.1:p.Leu2134= | |
| XM_006714468.1:c.6204A>G | XP_006714531.1:p.Leu2068= | |
| XM_011514014.1:c.6021A>G | XP_011512316.1:p.Leu2007= | |
| XM_011514015.1:c.6402A>G | XP_011512317.1:p.Leu2134= | |
| XM_005248280.3:c.6402A>G | XP_005248337.1:p.Leu2134= | |
| XM_005248282.5:c.5742A>G | XP_005248339.3:p.Leu1914= | |
| XM_006714468.2:c.6204A>G | XP_006714531.1:p.Leu2068= | |
| XM_017009329.1:c.6402A>G | XP_016864818.1:p.Leu2134= | |
| XM_017009330.2:c.4785A>G | XP_016864819.1:p.Leu1595= | |
| XM_017009331.1:c.4776A>G | XP_016864820.1:p.Leu1592= | |
| NM_133433.4:c.6402A>G MANE Select | NP_597677.2:p.Leu2134= | |
| NM_015384.5:c.6402A>G | NP_056199.2:p.Leu2134= |