gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007506 (SAS)
Exomes Max Group AF
0.00007997 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30671873G>A , CM000665.2:g.30671873G>A | GRCh38 |
| NC_000003.11:g.30713365G>A , CM000665.1:g.30713365G>A | GRCh37 |
| NC_000003.10:g.30688369G>A | NCBI36 |
| NG_007490.1:g.70372G>A , LRG_779:g.70372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.690G>A MANE Select | ENSP00000295754.5:p.Thr230= | |
| ENST00000672866.1:n.2286G>A | ||
| ENST00000295754.9:c.690G>A | ENSP00000295754.5:p.Thr230= | |
| ENST00000359013.4:c.765G>A | ENSP00000351905.4:p.Thr255= | |
| NM_001024847.2:c.765G>A , LRG_779t1:c.765G>A | NP_001020018.1:p.Thr255= | |
| NM_003242.5:c.690G>A | NP_003233.4:p.Thr230= | |
| XM_011534043.1:c.717G>A | XP_011532345.1:p.Thr239= | |
| XM_011534044.1:c.642G>A | XP_011532346.1:p.Thr214= | |
| XM_011534045.1:c.585G>A | XP_011532347.1:p.Thr195= | |
| XM_011534043.2:c.717G>A | XP_011532345.1:p.Thr239= | |
| XM_011534045.3:c.585G>A | XP_011532347.1:p.Thr195= | |
| XM_017007106.1:c.585G>A | XP_016862595.1:p.Thr195= | |
| NM_003242.6:c.690G>A MANE Select | NP_003233.4:p.Thr230= |