gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11434919G>T , CM000681.2:g.11434919G>T | GRCh38 |
| NC_000019.9:g.11545740G>T , CM000681.1:g.11545740G>T | GRCh37 |
| NC_000019.8:g.11406740G>T | NCBI36 |
| NG_009300.1:g.4472G>T | |
| NG_041777.1:g.5864C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.98C>A MANE Select | ENSP00000348757.3:p.Ser33Ter | |
| ENST00000356392.8:c.98C>A | ENSP00000348757.3:p.Ser33Ter | |
| ENST00000586836.5:c.-330+771C>A | ENSP00000467429.1:n.-330+771C>A | |
| ENST00000591179.5:c.98C>A | ENSP00000466800.1:p.Ser33Ter | |
| ENST00000591345.5:c.98C>A | ENSP00000467313.1:p.Ser33Ter | |
| NM_001302453.1:c.82+771C>A | NP_001289382.1:n.82+771C>A | |
| NM_001302454.1:c.98C>A | NP_001289383.1:p.Ser33Ter | |
| NM_145045.4:c.98C>A | NP_659482.3:p.Ser33Ter | |
| XM_017026241.1:c.98C>A | XP_016881730.1:p.Ser33Ter | |
| NM_145045.5:c.98C>A MANE Select | NP_659482.3:p.Ser33Ter | |
| NM_001302454.2:c.98C>A | NP_001289383.1:p.Ser33Ter |