gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001568 (NFE)
Exomes Max Group AF
0.00001664 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47945594G>A , CM000679.2:g.47945594G>A | GRCh38 |
| NC_000017.10:g.46022960G>A , CM000679.1:g.46022960G>A | GRCh37 |
| NC_000017.9:g.43377959G>A | NCBI36 |
| NG_008744.1:g.9072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.399G>A | ENSP00000225573.5:p.Trp133Ter | |
| ENST00000434554.7:c.364-267G>A | ENSP00000399960.3:n.364-267G>A | |
| ENST00000582171.6:c.*64G>A | ENSP00000463994.1:n.*64G>A | |
| ENST00000583245.6:n.367G>A | ||
| ENST00000583599.6:c.159G>A | ENSP00000463919.2:p.Trp53Ter | |
| ENST00000584061.6:c.334-4G>A | ENSP00000463972.2:n.334-4G>A | |
| ENST00000584806.2:n.197G>A | ||
| ENST00000641285.1:n.179G>A | ||
| ENST00000641305.1:n.1317G>A | ||
| ENST00000641323.1:c.*418G>A | ENSP00000492965.1:n.*418G>A | |
| ENST00000641427.1:n.399G>A | ||
| ENST00000641511.1:c.279-729G>A | ||
| ENST00000641703.1:c.134-267G>A | ENSP00000493219.1:n.134-267G>A | |
| ENST00000641709.1:c.*221G>A | ENSP00000493349.1:n.*221G>A | |
| ENST00000641856.1:c.*907G>A | ENSP00000493224.1:n.*907G>A | |
| ENST00000642017.2:c.399G>A MANE Select | ENSP00000493302.2:p.Trp133Ter | |
| ENST00000225573.4:c.399G>A | ENSP00000225573.4:p.Trp133Ter | |
| ENST00000434554.6:c.399G>A | ENSP00000399960.2:p.Trp133Ter | |
| ENST00000582171.5:c.*64G>A | ENSP00000463994.1:n.*64G>A | |
| ENST00000583245.5:c.*418G>A | ENSP00000463520.1:n.*418G>A | |
| ENST00000583599.5:c.159G>A | ENSP00000463919.1:p.Trp53Ter | |
| ENST00000584061.5:c.*221G>A | ENSP00000463972.1:n.*221G>A | |
| ENST00000584806.1:n.197G>A | ||
| ENST00000585320.5:c.*29-729G>A | ENSP00000462345.1:n.*29-729G>A | |
| NM_018129.3:c.399G>A | NP_060599.1:p.Trp133Ter | |
| XM_005257500.2:c.159G>A | XP_005257557.1:p.Trp53Ter | |
| XM_011524968.1:c.114G>A | XP_011523270.1:p.Trp38Ter | |
| XM_005257500.3:c.159G>A | XP_005257557.1:p.Trp53Ter | |
| XM_011524968.2:c.114G>A | XP_011523270.1:p.Trp38Ter | |
| XM_017024813.1:c.159G>A | XP_016880302.1:p.Trp53Ter | |
| NM_018129.4:c.399G>A MANE Select | NP_060599.1:p.Trp133Ter |