gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005192 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005248 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41981728C>A , CM000681.2:g.41981728C>A | GRCh38 |
| NC_000019.9:g.42485880C>A , CM000681.1:g.42485880C>A | GRCh37 |
| NC_000019.8:g.47177720C>A | NCBI36 |
| NG_008015.1:g.17503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1335G>T | ENSP00000444688.1:p.Val445= | |
| ENST00000644613.1:c.1296G>T | ENSP00000494711.1:p.Val432= | |
| ENST00000648268.1:c.1296G>T MANE Select | ENSP00000498113.1:p.Val432= | |
| ENST00000302102.9:c.1296G>T | ENSP00000302397.5:p.Val432= | |
| ENST00000441343.5:c.1296G>T | ENSP00000411503.1:p.Val432= | |
| ENST00000543770.5:c.1329G>T | ENSP00000437577.1:p.Val443= | |
| ENST00000545399.5:c.1335G>T | ENSP00000444688.1:p.Val445= | |
| ENST00000602133.5:c.1206G>T | ENSP00000471581.1:p.Val402= | |
| NM_001256213.1:c.1329G>T | NP_001243142.1:p.Val443= | |
| NM_001256214.1:c.1335G>T | NP_001243143.1:p.Val445= | |
| NM_152296.4:c.1296G>T | NP_689509.1:p.Val432= | |
| XM_011526991.1:c.1206G>T | XP_011525293.1:p.Val402= | |
| NM_152296.5:c.1296G>T MANE Select | NP_689509.1:p.Val432= | |
| NM_001256214.2:c.1335G>T | NP_001243143.1:p.Val445= | |
| NM_001256213.2:c.1329G>T | NP_001243142.1:p.Val443= |