ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000773 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000538 (NFE)
Revel Score:
ENST00000295934 (MANE Select)
0.937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57198405C>T , CM000665.2:g.57198405C>T | GRCh38 |
| NC_000003.11:g.57232433C>T , CM000665.1:g.57232433C>T | GRCh37 |
| NC_000003.10:g.57207473C>T | NCBI36 |
| NG_008242.1:g.6848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295934.8:c.445G>A MANE Select | ENSP00000295934.3:p.Glu149Lys | |
| ENST00000647958.1:c.445G>A | ENSP00000498190.1:p.Glu149Lys | |
| ENST00000295934.7:c.445G>A | ENSP00000295934.3:p.Glu149Lys | |
| ENST00000473921.2:c.358-110G>A | ENSP00000418918.1:n.358-110G>A | |
| NM_003865.2:c.445G>A | NP_003856.1:p.Glu149Lys | |
| XM_005265526.3:c.445G>A | XP_005265583.1:p.Glu149Lys | |
| XM_006713379.2:c.445G>A | XP_006713442.1:p.Glu149Lys | |
| XM_011534204.1:c.445G>A | XP_011532506.1:p.Glu149Lys | |
| XM_011534205.1:c.445G>A | XP_011532507.1:p.Glu149Lys | |
| XM_005265526.4:c.445G>A | XP_005265583.1:p.Glu149Lys | |
| XM_011534204.2:c.445G>A | XP_011532506.1:p.Glu149Lys | |
| XM_011534205.2:c.445G>A | XP_011532507.1:p.Glu149Lys | |
| XM_017007421.1:c.445G>A | XP_016862910.1:p.Glu149Lys | |
| XM_024453809.1:c.445G>A | XP_024309577.1:p.Glu149Lys | |
| NM_003865.3:c.445G>A MANE Select | NP_003856.1:p.Glu149Lys | |
| NM_001376058.1:c.445G>A | NP_001362987.1:p.Glu149Lys | |
| NM_001376059.1:c.445G>A | NP_001362988.1:p.Glu149Lys | |
| NM_001376060.1:c.445G>A | NP_001362989.1:p.Glu149Lys | |
| NM_001376061.1:c.445G>A | NP_001362990.1:p.Glu149Lys | |
| NR_164757.1:n.938G>A |