gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002613 (AMR)
Genomes Max Group AF
0.00005287 (AMR)
Exomes Max Group AF
0.00029574 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72735897C>T , CM000677.2:g.72735897C>T | GRCh38 |
| NC_000015.9:g.73028238C>T , CM000677.1:g.73028238C>T | GRCh37 |
| NC_000015.8:g.70815291C>T | NCBI36 |
| NG_009416.2:g.54713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.1179C>T MANE Select | ENSP00000268057.4:p.Ala393= | |
| ENST00000268057.8:c.1179C>T | ENSP00000268057.4:p.Ala393= | |
| ENST00000395205.6:c.663C>T | ENSP00000378631.3:p.Ala221= | |
| ENST00000562084.5:c.*1258C>T | ENSP00000454718.1:n.*1258C>T | |
| ENST00000566197.1:c.224C>T | ||
| ENST00000566400.5:c.*1069C>T | ENSP00000456759.1:n.*1069C>T | |
| ENST00000567279.5:c.*1033C>T | ENSP00000456664.1:n.*1033C>T | |
| ENST00000568535.1:n.381C>T | ||
| NM_001252678.1:c.663C>T | NP_001239607.1:p.Ala221= | |
| NM_033028.4:c.1179C>T | NP_149017.2:p.Ala393= | |
| NR_045565.1:n.1286C>T | ||
| NR_045566.1:n.1541C>T | ||
| XM_006720625.2:c.1110C>T | XP_006720688.1:p.Ala370= | |
| XM_011521848.1:c.663C>T | XP_011520150.1:p.Ala221= | |
| XM_011521849.1:c.663C>T | XP_011520151.1:p.Ala221= | |
| XM_011521850.1:c.663C>T | XP_011520152.1:p.Ala221= | |
| XM_011521851.1:c.447C>T | XP_011520153.1:p.Ala149= | |
| NM_001320665.1:c.1110C>T | NP_001307594.1:p.Ala370= | |
| XM_017022450.1:c.1134C>T | XP_016877939.1:p.Ala378= | |
| XM_017022452.1:c.663C>T | XP_016877941.1:p.Ala221= | |
| XM_017022453.1:c.663C>T | XP_016877942.1:p.Ala221= | |
| XM_017022454.1:c.663C>T | XP_016877943.1:p.Ala221= | |
| NM_033028.5:c.1179C>T MANE Select | NP_149017.2:p.Ala393= | |
| NM_001252678.2:c.663C>T | NP_001239607.1:p.Ala221= | |
| NM_001320665.2:c.1110C>T | NP_001307594.1:p.Ala370= | |
| NR_045565.2:n.1258C>T | ||
| NR_045566.2:n.1513C>T |