gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013376 (MID)
Exomes Max Group AF
0.00014152 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330788C>T , CM000669.2:g.143330788C>T | GRCh38 |
| NC_000007.13:g.143027881C>T , CM000669.1:g.143027881C>T | GRCh37 |
| NC_000007.12:g.142738003C>T | NCBI36 |
| NG_009815.1:g.19663C>T | |
| NG_009815.2:g.19663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.870C>T | ENSP00000498052.2:p.Ile290= | |
| ENST00000343257.7:c.870C>T MANE Select | ENSP00000339867.2:p.Ile290= | |
| ENST00000432192.6:c.694C>T | ||
| ENST00000455478.6:c.458C>T | ENSP00000400027.2:n.458C>T | |
| ENST00000650516.1:c.870C>T | ENSP00000498052.1:p.Ile290= | |
| ENST00000343257.6:c.870C>T | ENSP00000339867.2:p.Ile290= | |
| ENST00000432192.5:c.384C>T | ||
| ENST00000455478.5:c.462C>T | ||
| ENST00000495612.1:n.171C>T | ||
| NM_000083.2:c.870C>T | NP_000074.2:p.Ile290= | |
| NR_046453.1:n.960C>T | ||
| XM_011515781.1:c.870C>T | XP_011514083.1:p.Ile290= | |
| XM_017011739.1:c.420C>T | XP_016867228.1:p.Ile140= | |
| XM_017011740.1:c.420C>T | XP_016867229.1:p.Ile140= | |
| NM_000083.3:c.870C>T MANE Select | NP_000074.3:p.Ile290= | |
| NR_046453.2:n.975C>T |