gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174759502G>A , CM000664.2:g.174759502G>A | GRCh38 |
| NC_000002.11:g.175624230G>A , CM000664.1:g.175624230G>A | GRCh37 |
| NC_000002.10:g.175332476G>A | NCBI36 |
| NG_008172.1:g.9971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.-315C>T | ENSP00000490338.2:n.-315C>T | |
| ENST00000672640.1:c.-315C>T | ENSP00000500507.1:n.-315C>T | |
| ENST00000261007.9:c.175C>T | ENSP00000261007.5:p.Gln59Ter | |
| ENST00000348749.9:c.175C>T MANE Select | ENSP00000261008.5:p.Gln59Ter | |
| ENST00000409219.5:c.175C>T | ENSP00000386611.1:p.Gln59Ter | |
| ENST00000409323.1:c.175C>T | ENSP00000386684.1:p.Gln59Ter | |
| ENST00000409542.5:c.175C>T | ENSP00000387026.1:p.Gln59Ter | |
| ENST00000435083.5:c.175C>T | ENSP00000395805.1:p.Gln59Ter | |
| NM_000079.3:c.175C>T | NP_000070.1:p.Gln59Ter | |
| NM_001039523.2:c.175C>T | NP_001034612.1:p.Gln59Ter | |
| XM_017003256.1:c.196C>T | XP_016858745.1:p.Gln66Ter | |
| XM_017003257.1:c.196C>T | XP_016858746.1:p.Gln66Ter | |
| NM_000079.4:c.175C>T MANE Select | NP_000070.1:p.Gln59Ter | |
| NM_001039523.3:c.175C>T | NP_001034612.1:p.Gln59Ter |