gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004373 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10599365C>T , CM000663.2:g.10599365C>T | GRCh38 |
| NC_000001.10:g.10659422C>T , CM000663.1:g.10659422C>T | GRCh37 |
| NC_000001.9:g.10582009C>T | NCBI36 |
| NG_008340.1:g.129420C>T | |
| NG_008340.2:g.129420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.297C>T MANE Select | ENSP00000349016.4:p.Tyr99= | |
| ENST00000356607.8:c.297C>T | ENSP00000349016.4:p.Tyr99= | |
| ENST00000491661.2:c.282C>T | ENSP00000465473.1:p.Tyr94= | |
| NM_004565.2:c.297C>T | NP_004556.1:p.Tyr99= | |
| XM_005263470.3:c.105C>T | XP_005263527.1:p.Tyr35= | |
| XM_011541577.1:c.339C>T | XP_011539879.1:p.Tyr113= | |
| XM_011541578.1:c.240C>T | XP_011539880.1:p.Tyr80= | |
| XM_011541579.1:c.212-18967C>T | XP_011539881.1:n.212-18967C>T | |
| XM_011541580.1:c.170-18967C>T | XP_011539882.1:n.170-18967C>T | |
| XM_005263470.5:c.105C>T | XP_005263527.1:p.Tyr35= | |
| XM_011541577.2:c.339C>T | XP_011539879.1:p.Tyr113= | |
| XM_011541578.2:c.240C>T | XP_011539880.1:p.Tyr80= | |
| XM_011541579.3:c.212-18967C>T | XP_011539881.1:n.212-18967C>T | |
| XM_024447651.1:c.105C>T | XP_024303419.1:p.Tyr35= | |
| NM_004565.3:c.297C>T MANE Select | NP_004556.1:p.Tyr99= |