gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020742 (NFE)
Genomes Max Group AF
0.00017076 (NFE)
Exomes Max Group AF
0.00020481 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10618414C>T , CM000663.2:g.10618414C>T | GRCh38 |
| NC_000001.10:g.10678471C>T , CM000663.1:g.10678471C>T | GRCh37 |
| NC_000001.9:g.10601058C>T | NCBI36 |
| NG_008340.1:g.148469C>T | |
| NG_008340.2:g.148469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.381C>T MANE Select | ENSP00000349016.4:p.Tyr127= | |
| ENST00000356607.8:c.381C>T | ENSP00000349016.4:p.Tyr127= | |
| ENST00000491661.2:c.366C>T | ENSP00000465473.1:p.Tyr122= | |
| NM_004565.2:c.381C>T | NP_004556.1:p.Tyr127= | |
| XM_005263470.3:c.189C>T | XP_005263527.1:p.Tyr63= | |
| XM_011541577.1:c.423C>T | XP_011539879.1:p.Tyr141= | |
| XM_011541578.1:c.324C>T | XP_011539880.1:p.Tyr108= | |
| XM_011541579.1:c.294C>T | XP_011539881.1:p.Tyr98= | |
| XM_011541580.1:c.252C>T | XP_011539882.1:p.Tyr84= | |
| XM_005263470.5:c.189C>T | XP_005263527.1:p.Tyr63= | |
| XM_011541577.2:c.423C>T | XP_011539879.1:p.Tyr141= | |
| XM_011541578.2:c.324C>T | XP_011539880.1:p.Tyr108= | |
| XM_011541579.3:c.294C>T | XP_011539881.1:p.Tyr98= | |
| XM_024447651.1:c.189C>T | XP_024303419.1:p.Tyr63= | |
| NM_004565.3:c.381C>T MANE Select | NP_004556.1:p.Tyr127= |