ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72694550G>A , CM000671.2:g.72694550G>A | GRCh38 |
| NC_000009.11:g.75309466G>A , CM000671.1:g.75309466G>A | GRCh37 |
| NC_000009.10:g.74499286G>A | NCBI36 |
| NG_008213.1:g.177750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.72G>A MANE Select | ENSP00000297784.6:p.Glu24= | |
| ENST00000644967.1:c.-241G>A | ENSP00000496159.1:n.-241G>A | |
| ENST00000645053.1:c.-241G>A | ENSP00000493838.1:n.-241G>A | |
| ENST00000645208.2:c.72G>A | ENSP00000494684.1:p.Glu24= | |
| ENST00000645773.1:c.72G>A | ENSP00000493698.1:p.Glu24= | |
| ENST00000645787.1:n.112G>A | ||
| ENST00000646244.1:n.522G>A | ||
| ENST00000646619.1:c.-241G>A | ENSP00000493726.1:n.-241G>A | |
| ENST00000650689.1:n.496G>A | ||
| ENST00000651183.1:c.-241G>A | ENSP00000498723.1:n.-241G>A | |
| ENST00000297784.9:c.72G>A | ENSP00000297784.5:p.Glu24= | |
| ENST00000340019.4:c.72G>A | ENSP00000341433.3:p.Glu24= | |
| NM_138691.2:c.72G>A | NP_619636.2:p.Glu24= | |
| XM_011518213.1:c.660G>A | XP_011516515.1:p.Glu220= | |
| XM_017014256.1:c.75G>A | XP_016869745.1:p.Glu25= | |
| NM_138691.3:c.72G>A MANE Select | NP_619636.2:p.Glu24= |