gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00955488 (MID)
Genomes Max Group AF
0.00159707 (SAS)
Exomes Max Group AF
0.00848057 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195974A>T , CM000679.2:g.50195974A>T | GRCh38 |
| NC_000017.10:g.48273335A>T , CM000679.1:g.48273335A>T | GRCh37 |
| NC_000017.9:g.45628334A>T | NCBI36 |
| NG_007400.1:g.10666T>A , LRG_1:g.10666T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1005T>A MANE Select | ENSP00000225964.6:p.Gly335= | |
| ENST00000225964.9:c.1005T>A | ENSP00000225964.5:p.Gly335= | |
| NM_000088.3:c.1005T>A , LRG_1t1:c.1005T>A | NP_000079.2:p.Gly335= | |
| XM_005257058.3:c.1005T>A | XP_005257115.2:p.Gly335= | |
| XM_005257059.3:c.957+340T>A | XP_005257116.2:n.957+340T>A | |
| XM_011524341.1:c.957+340T>A | XP_011522643.1:n.957+340T>A | |
| XM_005257058.4:c.1005T>A | XP_005257115.2:p.Gly335= | |
| XM_005257059.4:c.957+340T>A | XP_005257116.2:n.957+340T>A | |
| NM_000088.4:c.1005T>A MANE Select | NP_000079.2:p.Gly335= |