gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67445334 (EAS)
Genomes Max Group AF
0.67445334 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30668019A>T , CM000665.2:g.30668019A>T | GRCh38 |
| NC_000003.11:g.30709511A>T , CM000665.1:g.30709511A>T | GRCh37 |
| NC_000003.10:g.30684515A>T | NCBI36 |
| NG_007490.1:g.66518A>T , LRG_779:g.66518A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.455-3619A>T MANE Select | ENSP00000295754.5:n.455-3619A>T | |
| ENST00000672866.1:n.2051-3619A>T | ||
| ENST00000295754.9:c.455-3619A>T | ENSP00000295754.5:n.455-3619A>T | |
| ENST00000359013.4:c.530-3619A>T | ENSP00000351905.4:n.530-3619A>T | |
| NM_001024847.2:c.530-3619A>T , LRG_779t1:c.530-3619A>T | NP_001020018.1:n.530-3619A>T | |
| NM_003242.5:c.455-3619A>T | NP_003233.4:n.455-3619A>T | |
| XM_011534043.1:c.482-3619A>T | XP_011532345.1:n.482-3619A>T | |
| XM_011534044.1:c.407-3619A>T | XP_011532346.1:n.407-3619A>T | |
| XM_011534045.1:c.350-3619A>T | XP_011532347.1:n.350-3619A>T | |
| XM_011534043.2:c.482-3619A>T | XP_011532345.1:n.482-3619A>T | |
| XM_011534045.3:c.350-3619A>T | XP_011532347.1:n.350-3619A>T | |
| XM_017007106.1:c.350-3619A>T | XP_016862595.1:n.350-3619A>T | |
| NM_003242.6:c.455-3619A>T MANE Select | NP_003233.4:n.455-3619A>T |