gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002363 (SAS)
Exomes Max Group AF
0.00001697 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30971199C>T , CM000669.2:g.30971199C>T | GRCh38 |
| NC_000007.13:g.31010814C>T , CM000669.1:g.31010814C>T | GRCh37 |
| NC_000007.12:g.30977339C>T | NCBI36 |
| NG_021416.1:g.12179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.447C>T MANE Select | ENSP00000320180.2:p.Thr149= | |
| ENST00000326139.6:c.447C>T | ENSP00000320180.2:p.Thr149= | |
| ENST00000337750.9:c.174+1235C>T | ENSP00000338184.4:n.174+1235C>T | |
| ENST00000396227.6:c.255C>T | ENSP00000379529.2:p.Thr85= | |
| ENST00000409316.5:c.-101C>T | ENSP00000386602.1:n.-101C>T | |
| ENST00000409904.7:c.255C>T | ENSP00000387113.3:p.Thr85= | |
| ENST00000489974.5:n.220C>T | ||
| NM_000823.3:c.447C>T | NP_000814.2:p.Thr149= | |
| XM_011515263.1:c.255C>T | XP_011513565.1:p.Thr85= | |
| NM_000823.4:c.447C>T MANE Select | NP_000814.2:p.Thr149= |