gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Genomes Max Group AF
0.00001918 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36574675C>T , CM000673.2:g.36574675C>T | GRCh38 |
| NC_000011.9:g.36596225C>T , CM000673.1:g.36596225C>T | GRCh37 |
| NC_000011.8:g.36552801C>T | NCBI36 |
| NG_007528.1:g.11663C>T , LRG_98:g.11663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.1371C>T | ENSP00000513411.1:p.Ile457= | |
| ENST00000697714.1:c.1371C>T | ENSP00000513412.1:p.Ile457= | |
| ENST00000697715.1:c.1371C>T | ENSP00000513413.1:p.Ile457= | |
| ENST00000299440.6:c.1371C>T MANE Select | ENSP00000299440.5:p.Ile457= | |
| ENST00000299440.5:c.1371C>T | ENSP00000299440.5:p.Ile457= | |
| ENST00000534663.1:c.1371C>T | ENSP00000434610.1:p.Ile457= | |
| NM_000448.2:c.1371C>T , LRG_98t1:c.1371C>T | NP_000439.1:p.Ile457= | |
| XM_005253041.3:c.1371C>T | XP_005253098.1:p.Ile457= | |
| XM_011520250.1:c.1371C>T | XP_011518552.1:p.Ile457= | |
| XM_011520251.1:c.1371C>T | XP_011518553.1:p.Ile457= | |
| XM_005253041.4:c.1371C>T | XP_005253098.1:p.Ile457= | |
| XM_011520250.2:c.1371C>T | XP_011518552.1:p.Ile457= | |
| NM_000448.3:c.1371C>T MANE Select | NP_000439.2:p.Ile457= | |
| NM_001377277.1:c.1371C>T | NP_001364206.1:p.Ile457= | |
| NM_001377278.1:c.1371C>T | NP_001364207.1:p.Ile457= | |
| NM_001377279.1:c.1371C>T | NP_001364208.1:p.Ile457= | |
| NM_001377280.1:c.1371C>T | NP_001364209.1:p.Ile457= |