gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157211358C>T , CM000667.2:g.157211358C>T | GRCh38 |
| NC_000005.9:g.156638369C>T , CM000667.1:g.156638369C>T | GRCh37 |
| NC_000005.8:g.156570947C>T | NCBI36 |
| NG_016276.1:g.35463C>T , LRG_189:g.35463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.315C>T | ENSP00000513001.1:p.Ala105= | |
| ENST00000422843.8:c.315C>T MANE Select | ENSP00000398655.4:p.Ala105= | |
| ENST00000422843.7:c.315C>T | ENSP00000398655.3:p.Ala105= | |
| ENST00000517779.1:c.315C>T | ENSP00000431054.1:p.Ala105= | |
| ENST00000519402.5:n.450C>T | ||
| ENST00000520555.5:n.453C>T | ||
| ENST00000521769.5:c.-61C>T | ENSP00000430327.1:n.-61C>T | |
| NM_005546.3:c.315C>T , LRG_189t1:c.315C>T | NP_005537.3:p.Ala105= | |
| NM_005546.4:c.315C>T MANE Select | NP_005537.3:p.Ala105= |