gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077734 (AMR)
Genomes Max Group AF
0.00007312 (SAS)
Exomes Max Group AF
0.00107397 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4101034C>T , CM000681.2:g.4101034C>T | GRCh38 |
| NC_000019.9:g.4101032C>T , CM000681.1:g.4101032C>T | GRCh37 |
| NC_000019.8:g.4052032C>T | NCBI36 |
| NG_007996.1:g.28095G>A , LRG_750:g.28095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1129G>A | ||
| ENST00000687128.1:n.1129G>A | ||
| ENST00000689792.1:n.630G>A | ||
| ENST00000262948.10:c.690G>A MANE Select | ENSP00000262948.4:p.Thr230= | |
| ENST00000262948.9:c.690G>A | ENSP00000262948.3:p.Thr230= | |
| ENST00000394867.8:c.399G>A | ENSP00000378336.1:p.Thr133= | |
| ENST00000593364.5:n.637G>A | ||
| ENST00000597008.5:n.291G>A | ||
| ENST00000597263.5:n.154G>A | ||
| ENST00000599021.1:c.14G>A | ||
| ENST00000601786.5:n.991G>A | ||
| ENST00000602167.5:n.410G>A | ||
| NM_030662.3:c.690G>A , LRG_750t1:c.690G>A | NP_109587.1:p.Thr230= | |
| XM_006722799.2:c.690G>A | XP_006722862.1:p.Thr230= | |
| XM_011528133.1:c.120G>A | XP_011526435.1:p.Thr40= | |
| XM_017026989.1:c.690G>A | XP_016882478.1:p.Thr230= | |
| XM_017026990.1:c.690G>A | XP_016882479.1:p.Thr230= | |
| XM_017026991.1:c.690G>A | XP_016882480.1:p.Thr230= | |
| NM_030662.4:c.690G>A MANE Select | NP_109587.1:p.Thr230= |