gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020583 (EAS)
Genomes Max Group AF
0.00005843 (NFE)
Exomes Max Group AF
0.00023281 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31157520C>T , CM000670.2:g.31157520C>T | GRCh38 |
| NC_000008.10:g.31015036C>T , CM000670.1:g.31015036C>T | GRCh37 |
| NC_000008.9:g.31134578C>T | NCBI36 |
| NG_008870.1:g.129259C>T , LRG_524:g.129259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3972C>T MANE Select | ENSP00000298139.5:p.Pro1324= | |
| ENST00000650667.1:c.*3586C>T | ENSP00000498593.1:n.*3586C>T | |
| ENST00000298139.5:c.3972C>T | ENSP00000298139.5:p.Pro1324= | |
| ENST00000521620.5:n.2605C>T | ||
| NM_000553.4:c.3972C>T , LRG_524t1:c.3972C>T | NP_000544.2:p.Pro1324= | |
| XM_011544639.1:c.3891C>T | XP_011542941.1:p.Pro1297= | |
| XM_011544640.1:c.2373C>T | XP_011542942.1:p.Pro791= | |
| XR_949470.1:n.4245C>T | ||
| XR_949471.1:n.4245C>T | ||
| XR_949472.1:n.4245C>T | ||
| XR_949643.1:n.457-8855G>A | ||
| XR_949644.1:n.381-8855G>A | ||
| XR_949647.1:n.1070-8855G>A | ||
| XR_949648.1:n.972-8855G>A | ||
| NM_000553.5:c.3972C>T | NP_000544.2:p.Pro1324= | |
| XM_011544639.3:c.3891C>T | XP_011542941.1:p.Pro1297= | |
| XM_024447265.1:c.3762C>T | XP_024303033.1:p.Pro1254= | |
| XR_949470.3:n.4273C>T | ||
| XR_949471.3:n.4273C>T | ||
| XR_949472.3:n.4273C>T | ||
| NM_000553.6:c.3972C>T MANE Select | NP_000544.2:p.Pro1324= |