gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20551615 (MID)
Genomes Max Group AF
0.20785167 (EAS)
Exomes Max Group AF
0.20558869 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154567669C>T , CM000666.2:g.154567669C>T | GRCh38 |
| NC_000004.11:g.155488821C>T , CM000666.1:g.155488821C>T | GRCh37 |
| NC_000004.10:g.155708271C>T | NCBI36 |
| NG_008833.1:g.9690C>T , LRG_558:g.9690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.567C>T MANE Select | ENSP00000306099.4:p.Ser189= | |
| ENST00000302068.8:c.567C>T | ENSP00000306099.4:p.Ser189= | |
| ENST00000473984.1:n.480C>T | ||
| ENST00000502545.5:n.548C>T | ||
| ENST00000509493.1:c.-91C>T | ENSP00000426757.1:n.-91C>T | |
| NM_001184741.1:c.390C>T | NP_001171670.1:p.Ser130= | |
| NM_005141.4:c.567C>T , LRG_558t1:c.567C>T | NP_005132.2:p.Ser189= | |
| NM_001382759.1:c.435C>T | NP_001369688.1:p.Ser145= | |
| NM_001382760.1:c.567C>T | NP_001369689.1:p.Ser189= | |
| NM_001382761.1:c.567C>T | NP_001369690.1:p.Ser189= | |
| NM_001382762.1:c.567C>T | NP_001369691.1:p.Ser189= | |
| NM_001382763.1:c.567C>T | NP_001369692.1:p.Ser189= | |
| NM_001382764.1:c.567C>T | NP_001369693.1:p.Ser189= | |
| NM_001382765.1:c.567C>T | NP_001369694.1:p.Ser189= | |
| NM_005141.5:c.567C>T MANE Select | NP_005132.2:p.Ser189= |