ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001466 (NFE)
Exomes Max Group AF
0.00001556 (NFE)
Revel Score:
ENST00000477593
0.246
ENST00000544716
0.246
ENST00000289153
0.246
ENST00000493568
0.156
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138698935T>C , CM000665.2:g.138698935T>C | GRCh38 |
| NC_000003.11:g.138417777T>C , CM000665.1:g.138417777T>C | GRCh37 |
| NC_000003.10:g.139900467T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674063.1:c.1742A>G MANE Select | ENSP00000501150.1:p.Lys581Arg | |
| ENST00000289153.6:c.1742A>G | ENSP00000289153.2:p.Lys581Arg | |
| ENST00000462898.5:c.*1311A>G | ENSP00000420108.1:n.*1311A>G | |
| ENST00000469284.6:c.309A>G | ENSP00000419513.2:n.309A>G | |
| ENST00000473435.1:c.338A>G | ENSP00000419091.1:p.Lys113Arg | |
| ENST00000477593.5:c.1742A>G | ENSP00000418143.1:p.Lys581Arg | |
| ENST00000481749.5:n.624A>G | ||
| ENST00000493568.5:c.637A>G | ||
| ENST00000544716.5:c.80A>G | ENSP00000438259.1:p.Lys27Arg | |
| NM_001256045.1:c.278A>G | NP_001242974.1:p.Lys93Arg | |
| NM_006219.2:c.1742A>G | NP_006210.1:p.Lys581Arg | |
| XM_005247530.2:c.1742A>G | XP_005247587.1:p.Lys581Arg | |
| XM_006713659.2:c.1742A>G | XP_006713722.1:p.Lys581Arg | |
| XM_011512895.1:c.1742A>G | XP_011511197.1:p.Lys581Arg | |
| XM_011512896.1:c.1238A>G | XP_011511198.1:p.Lys413Arg | |
| XM_006713659.3:c.1742A>G | XP_006713722.1:p.Lys581Arg | |
| XM_011512895.2:c.1742A>G | XP_011511197.1:p.Lys581Arg | |
| XM_017006619.1:c.1742A>G | XP_016862108.1:p.Lys581Arg | |
| XM_017006621.2:c.503A>G | XP_016862110.1:p.Lys168Arg | |
| XM_024453596.1:c.1520A>G | XP_024309364.1:p.Lys507Arg | |
| XM_024453597.1:c.554A>G | XP_024309365.1:p.Lys185Arg | |
| XR_002959542.1:n.1587A>G | ||
| NM_006219.3:c.1742A>G MANE Select | NP_006210.1:p.Lys581Arg | |
| NM_001256045.2:c.278A>G | NP_001242974.1:p.Lys93Arg |